Thalassemia Patients and Friends
Discussion Forums => Thalassemia Intermedia => Topic started by: Andy Battaglia on February 11, 2006, 06:48:03 AM
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The classification of thalassemia intermedia has a somewhat vague defintion that has changed over the years and continues to change. I have seen defintions that say it is a two gene thal and others say it can include one gene thal. The symptoms also cover a wide range. Mostly, it seems that the defintion is based on one's condition as a child, and that condition can change dramatically over time as one ages. As adults, some intermedias transfuse and chelate at or close to the same rate as majors. Some never need to transfuse.
I would like to see what you have to say about how you were diagnosed as an intermedia, at what age, and if you have transfused, and if so, how often do you transfuse? Also, for intermedias who chelate, have any of you had to use an iron chelator like desferal, even though you have never transfused?
When you were diagnosed, what was the diagnosis based on? Do you know what factors or criteria were used to determine that you were intermedia?
I know it's a lot of questions, but if you can answer any or all of them, it would be a great help to those who are trying to determine what their own classification of thal is.
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Hi,
My son was diagnosed with Thal Intermedia last summer when he as 10 years old. I knew I had the trait, and my husband tested negative for the trait before we had any children. My son's hemoglobin level normally stays in the high 8's/low 9's. During a bout of strep throat his hg level droped into the 7's and was sent to a Hematologist. After many, many tests he was determined to have a blood mutation. This mutation is not found in either myself or my husband. The Hematologist checks my son's hg levels every 2-3 months and checks his spleen size. He was concerned about abnormal facial bone growth but after a skull x-ray determined that he is doing ok.
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Hi,
You said your son has a mutation. Did they tell you what it is? I would definitely like to know more about this. Doctors label people intermedia but I would like to know on what basis. The classification seems to be one they say when they're stumped. Did the doctors explain how your son can have a mutation that neither parents has?
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The doctor could not identify the mutation where the tests were taken, at Schneider's Children's Hospital on Long Island. He took blood samples from the four of us, Myself, my husband, my son and my younger daughter and sent them to the Mayo Clinic. It came back identified as "Lufkin". He did not offer an answer as to how my son has this mutation. Considering that we thought we took the right precautions by having my husband tested before we even thought about having children, I still can't believe it.
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This is exactly why I asked people to post about intermedia. There is so much confusion about what it is. I've never heard of Lufkin before.
We have had some recent discussions in our former site about one gene intermedia and many other gene combinations have symptoms simillar to intermedia. Thanks for your responses and if there is anything else you can tell us, we would appreciate it.
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My wife (26 years) was diagnosed with Thal Intermidia about 5 years ago. She has had a splenectomy which did not improve her Hb level. She has had to to have few blood transfusions but it seems that the frenquency is now increasing. She is trying wheatgrass and I will keep this site posted of the results.
She was treated with Hydroxy Urea and her Hb went up by 1.5. Her doctor in India discontinued it after her nails started to turn bluish. Her doctor in the USA has started asking her to take the HU again and she has not had any side effects for the last several months.
We are planning to have a child. I was tested negative for Thal. Can anyone tell us the risks or experiences of having a child when the mother is Thal Intermedia.?. What are the chances that our child will become Thal major or Intermedia.?
Thank you all.
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Hi Bharat,
Has all possibility of you carrying any thalassemia mutation been ruled out? Have you also been tested for other non thal varaitons, like the lepore trait or Hemoglobin E? If none of these are a possibility and only the mother carries the trait, your child cannot be a major. Both parents have to be a carrier to be a major. Your child would have one thal Hb gene and one regular Hb gene, making the child a minor, the same as when a major has a child with a non carrier. And most of the moms in this group who are majors will tell you their kids are normal minors.
However, if you read the recent posts in this thread by MicheleKH you will see a different story. This is similar to what we heard from Barry at our previous site.
http://groups.msn.com/ThalassemiaPatientsandFriends/general.msnw?action=get_message&mview=1&ID_Message=3394
And this is why the defintion of intermedia is so vague. They tell us about intermedias who have only one thal gene. Cicci recently told us that the doctors said his daughter could be an intermedia like he is, even though the mom is not a carrier. If a person with only one thal gene can be an intermedia and require transfuions, then our definitions need serious revision. I think the problem lies in that the condition is relative to the extent of mutation on the gene and also in the cases where the thal gene is a dominant gene, as marientina brought up.
This has also been in our old discussions concerning the varying severity of minor. Some people are very much worse off than others who supposedly have the same condition. I think widespread studies on the actual severity of the gene mutation in thals would be very helpful in understanding the these wide variations. Is it possible to know through genetic tests how severe the variation is in one's genes and counsel prospective parents accordingly?
I think most people will tell you that your child will be a minor. These other cases happen, but are not typical. Does anyone know if it is possible and also accessible for people to have gene testing done for thal genes? It seems that this knowledge could be useful in many ways.
I think some of the moms out there can tell you about their pregnancies and what is required as far as transfusions and chelation.
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Michele,
Did they tell you anything else about the mutation and what its effects are? Is it something that's working in conjunction with the thal gene to cause intermedia? The only reference I could find to lufkin is that there is a Doctor Lufkin at the Mayo clinic. Perhaps it's something he has worked on. It doesn't seem like it can be the thal gene alone that is causing this since you aren't intermedia or major yourself. Some other traits like HbE and lepore when combined with one thal gene can cause an intermedia or worse condition. It may be something along this line that affects your son.
I do think that with the rarity of what your son has, that you did do all you could in advance of having children.
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Andy/Danielle
Thanks for the reply. I will make sure our doctors do the required tests before we embark on the journey to having a child. One goes through so many emotions and we have so many moral questions enough to drive us insane. My insurance company is Kaiser and they have great doctors but thalassemia is still not known to so many health professionals. I once called the nurse to ask what my wife could take for itching, probably because of the bilirubin. She said she didn't know what Thlassemia was and had to ask the doctor.
So sites like these help everyone come together and give each other strength, hope and encouragement.
Thanks again
Bharat
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Hi Andy,
From what I understand about my son's condition, it is the thal gene in conjunction with the blood mutation that causes his condition. His mutation of Lufkin is very rare, in fact I think only a couple of people have been found to have it. And since it was not passed on by either parent, it seems to be a spontaneous mutation. Mutations have to start somewhere, I guess. The doctor called his anemia a hemolytic anemia, meaning that the blood cells die early. This causes his bone marrow to constantly work hard to keep up with producing new blood cells. His diagnosis of Thalassemia Intermedia seems to be more of a clinical diagnosis based on the affects. The doctor said even though he's never seen this before, he knows how to follow and monitor blood disorders of this nature and so he is continually checking his blood counts, his spleen, his gall bladder and growth. I hope and pray that my son continues to do well with his condition without the need for hypertransfusions.
Many thanks to you and Danielle for this great website.
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Hi Michele,
There is a good defintion of Hemolytic anemia at
http://www.nlm.nih.gov/medlineplus/ency/article/000571.htm
"Hemolytic anemia is a condition of an inadequate number of circulating red blood cells (anemia) caused by premature destruction of red blood cells. There are a number of specific types of hemolytic anemia, which are described individually....Hemolytic anemia occurs when the bone marrow is unable to compensate for premature destruction of red blood cells by increasing their production. When the marrow is able to compensate, anemia does not occur.
There are many types of hemolytic anemia, which are classified by the location of the defect. The defect may be in the red blood cell itself (intrinsic factor), or outside the red blood cell (extrinsic factor).
Causes of hemolytic anemia include infection, certain medications, autoimmune disorders, and inherited disorders. Types of hemolytic anemia include:
* Sickle-cell anemia
* Paroxysmal nocturnal hemoglobinuria
* Hemoglobin SC disease
* Hemolytic anemia due to G6PD deficiency
* Hereditary elliptocytosis
* Hereditary spherocytosis
* Hereditary ovalocytosis
* Idiopathic autoimmune hemolytic anemia
* Non-immune hemolytic anemia caused by chemical or physical agents
* Secondary immune hemolytic anemia
* Thalassemia"
As you see, thalassemia is also one of the causes. This may present a need for monitoring actual iron levels in his body. Some types of hemolytic anemia can greatly reduce iron stores in the body, but normally those who carry the thal trait are advised against taking iron, as it wll not improve the red blood cell count and can lead to iron levels that aren't healthy. Has your son's blood ferritin been tested? Some types of hemolytic anemia can cause drastic drops in iron levels, and iron supplelmentation would be needed. However, iron should never be taken unless the level is actaully known to be low and a since a complete blood count won't tell you the iron level, a serum ferritin test will give you some idea of his levels. A universal recommendation is taking folic acid supplements. It does help to increase the volume of red blood cells and is routinely recommended for treating all forms of thalassemia and many other anemias.
I commend your doctors on the diagnosis and the care. It does sound like all the right things are being monitored and it does have the potential to be similar to intermedia. Your doctor is wise to treat it as so.
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Hi All
My son was 2.5 years old when we found out that he has Thal Intermedia. Looking back i feel that symptoms had begun surfacing after he turned 1.5 years but we could not get comprehend. The symptoms started like I noticed when he was fully potty trained at 2 I noticed his urine to be very darkcoloured. However in S'pore Docs kept on testing his urine and terming it normal. He also had a flu when he was 2 years and three months old, for which he was given Amoxycyclin and after which his eyes remained swollen for more than 2 weeks. He started looking jaundiced, but doc's still were not able to diagnose anything. His eyes were also showing yellowish tinge. He suddenly started looking thin. We were never advised to take a blood test when he was in S'pore, so i took him to India and there was a random hb test run. The report revealed everything. His hb was 4.5 and all the other level's were abnormal.
He was rushed to Dr Marwaha in PGI Mer, Chandigarh, who immediately started him on folic acid. His blood sample was taken as we were told it could be either herditiary Spherocytosis or G6PD. He was also tested for Osmotic fragility test. All teh above were ruled out. After 2 days my hubby's and my blood sample was taken. My husband had a very common beta thal trait, however I was diagnosed as normal and everybody was intrigued at my test results showing normal. Doctor ordered DNA test's for all the 3 off us. Even AIHA was also ruled out. Iron or Nutiritional defficency was ruled out. So when all options were ruled out only one possibility was left that he had Thal. However as I had tested negative to the trait, we all were optimistic that it might not be the case and could be some simple thing like malnutrition(we were kidding ourselves). Our blood was in process of electrophoresis as it takes 15 days for results, again my hubby's tests came positive confirming that he is Beta Thal carrier with raised Adult hb abt 6.0. My son's foetal HB was at 36.8% confirming he could be Thal Inter, but my blood electrophoresis report was again normal. Doctors' knew there and then it was Thal, but they wanted us to keep our hopes up for DNA report. DNA confirmed it all. My hubby had the beta IVSI nt 5(g-c) mutation and I had CAP+1 SITE (A/C) & ALPHA mutation [PCR(SSM)] 3.7kb single gene deletion. My son took it all. His genotyping for XMN1 polymorphism showed that he is Homozygous negative(till date i dont understnad the significance of this test). ???
My son was, started on Hydrooxy urea after that and folic acid. After 6 months wheat grass theory came along and we started on wheat grass capsules. However after trying capsules and tablets we tried the spray and are satisfied with it. he took one transfusion abt 1.5 years back and his hb normally hovers around 7.5 and 8.
This is the story of my sons thalassemia intermedia diagnosis and yes it is a lot to do with clinical investigations as Dr Marwaha's used to monitor him every one month, then it changed to 2 months and now we take him for a blood test every 3 months with regular growth monitoring and spleen and liver.
Please feel free to ask me if I have missed out anyhting.
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Hi Poo Gill
Thank you for sharing your story with us. My wife was diagnosed with Thal Intermedia at 22 years of age. We were worried but after the splenectomy and treatment she is feeling much better. Can you tell us what what grass spray you used and how it may have helped your son.
Thank you.
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Hi Bharat
Wheat Grass Spray is from Australia. I found it from our old sight. I was initally using capsules from GNC, Singapore then shifted to wheat grass tablest made in Pune, India. However I felt the spray is much better in terms of ease of use and also the scientific theory behind why spray is more effective as compared to capsules and tablets is that the spray straight away dissolves itself in the bloodstream thru saliva and acts faster, so its potency is not lost in the Gut. Anyway i tried it and my 6 year old son seems to enjoy taking it now.
You can find more info on
info@wheatgrassactive.com
www.wheatgrassactive.com
You can even write to Dr Chris Reynolds drchris@wheatgrassactive.com, he is really prompt in replying.
Dr. Chris Reynolds.
Director.
WheatgrassActive
Level 2, 55 Swanston St.
Melbourne.
Victoria. 3000.
Australia.
T: +61 3 9650 7728
F: +61 3 9654 9828
info@wheatgrassactive.com
www.wheatgrassactive.com
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My name is Emilia mother of 24 months old son who is diagnosed with Beta Thalassemia. We don't know yet its Major vs. Intermedia. No body can tell us the exact diagnose. To make the long story short My son Kristian is invitro baby diagnosed with Beta Thalassemia Major last September in Bulgaria when we was on vacation. At the time he was 16 months old. The first transfusion was in Bulgaria. When we came back from Bulgaria we did all the testing in the USA.
The DNA shows that he has inherited both the beta-zero mutation from his father and the variation (probably mild thalassemia mutation) that I have on one of my Beta Globin Genes. The b-Globin Gene Sequencing shows that we are heterozygous for C->A Substitution at nucleotide 478 of a second Intron, (IVS-2, 478 C->A) that is very unique and it wasn’t reported yet in the history.
Kristian’s has about twice the typical amount of adult hemoglobin (Hb A) that is seen most individuals with Intermedia. Since all the Hb A he has is made by the gene he inherited from me, this finding lends support to the idea that this is a mild Beta Thalassemia mutation.
Given his high level of Hb A and Hb F relative to the typical individual with Beta Thalassemia Intermedia. Based on these relatively high levels, it is unusual that his total Hb levels drops as it does.
He had 5 transfusions since last September. The lowest Hb lever he has is 6.8.
The unusual is that he is never tired. He is full of energy even if Hb level is at 6.8. The only think is that he lost his appetite and if I frost him to eat he starts vomiting.
We met Dr Vichensky at Children’s Hospital in Oakland last month and he sounds very sure that Kristian’s have Thalassemia Intermedia. He had two suggestions ether to put him on regular Blood transfusion protocol for 6 months or leave him and watch how low his Hb level will drop.
We haven’t decided yet what to do and what the best way is for him. He still has his transfusions when his Hb level drops below 7. His Feritini level right now is 475 which is far from chelation therapy.
In the mean time we are planning to have another invitro with PGD (Preimplantation Genetic Diagnosis. If we are lucky to have another child and if there is HLA much which will give a great hope that Kristian might live a normal life. Don’t take me wrong we don’t have a child only for a donor. We want to have a healthy child that is not affected by the Thalassemia.
Well this is my story. Please feel free to ask me if you have any questions.
Thank you all.
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Hi Emilia
Please ask your Doctor for Hydro Oxy urea, it is a medicine which aids the increase of foetal hb in human bodies.
may be it will suit him. You can also try wheat grass spray.
All the best, feel free to ask anything.
Puja
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Hi Emilia,
Are you planning on saving the cord blood of your next child? I'm curious if this is becoming more of a routine recommendation.
Dr Vichinsky is one of the top thalassemia specialists in the world, and his belief that your son is intermedia is well supported by the genetic and physical evidence. His energy level alone, indicates that he is most likely not major. The beta zero mutation has the potential to cause a severe thal major when combined with any moderate to severe mutation of the other beta gene, so it is somewhat fortunate (relatively) that you have a mild mutation, as for now it means that he doesn't need regular transfusions.
The question of whether to transfuse at his Hb levels is not easy as there are many pros and cons. Much depends on his skeletal and physical development and if there is normal development and he maintains his energy level, it may be wise to put off transfusing as long as possible. Regular transfusions will shut down his bone marrow so that the production of what good blood that is now being produced will cease. However, if his develoment is slow and his bones show any abnormality. transfusion will be highly recommended.
I will be very interested in updates on your son and his development and also if he is able to maintain the high HbA and HbF levels as he ages. There is so much that is unknown about thalassemia and the more cases like this are studied the better the chances of developing more specific therapies for individual patients.
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Hi Emilia,
I have another question. You mentioned that the father has the beta-zero mutation. Does he have many health issues that would be related to the anemia and is anemia a problem for him?
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My wife and I are considering having a child. My wife is Thal Intermdia. Is it better to try to concieve when the Hb is at 11 or 12 after her transfusions or at 8.9, which is what the Hb level is right now. Is there any negative effects on the child at low Hb levels. I know for any pregnant mother the first 12 weeks are the most imporatant.??
Thanks alot.
Bharat
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Hello My Name is Ric,
Im 24 years old i was recently feeling week and my condition was deteriorating without any prior syptoms till october 2005 in my life i met a hematologist who did blood work on me my base line hemoglobin was 82 but my condition wa worsening so i was transfused in january, i felt great for 2 weeks and then i deteriorated by the time i got to the center here in montreal my hemoglobin level was at 38 no joke at all, upon doing an ultrasound my spleen which was larger than usual had grown to 36 centimeters and was chewing all my cells up you name it white , red and platlets, i was hospitalized for 35 days and at the beging was nutropenic for about 20 days i was reciving 2 units of blood per day and there were no increases in my counts ia major splenectomy was needed but my hemoglobin stayed at about 45 too dangerous to operate finally a liver transplant surgeon performed the operation with success and no losss of blood i survived almost certain death because at the time i was febrale and not responding to any antibiotics such as vancomiacin or inpenum and yet i had an unknown infection. after this surgery my hemoglobin began to rise i am currently taking prenizone daily as an immunosupppressent as my white blood cells have developed auto imune responses to any transfused cells and my hemoglbin today is about 95 this after 1 month from surgery, and no more blood transfusions, they are trying an experimental treatment that is used in oncology called rituxan to suppress my b cells so as not to kill my red blood cells and it may be a long term cure, i have mild osteopenia, but other than that i have never been ill and guess what i tested negative for any thal traits on numerous hemoglobin electrophorese, : up to now they have not been able to cross refernce any documented cases with me and belive the mutation i have is a-gammma delta beta thalasemmia intermedia, i currently finished 4 tretments of rituxan and now am on a weekly blood testing session with my great team of doctors who saved my life please share any info if you know anyone who is using rituxan with thalassemia?????? Preety wierd case!!!!! huh!
Ricccardo
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up to now they have not been able to cross refernce any documented cases with me and belive the mutation i have is a-gammma delta beat thalasemmia intermedia, i currently finished 4 tretments of rituxan
Did your doctors have any reasont to suspect thal, besides the enlarged spleen? And, I am not sure whether you meant that your spleen suddenly enlarged, or was enlarged at diagonosis?
I know someone who went through a similar issue like yours, until the doctors figured out that the bone marrow was "suppressed" due to some chemical reaction and it was not thal intermedia at all.
Good luck with your treatment.
Poirot
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Yes they found only featal hemoglobin being produced also quite rare 100% hg F and then there two fo my mothers cousins in italy who passed on from what we think was thal major but this was in the 1960 and 1970 , my spleen was large for a while 18-20 cm and then it statred to grow in a month it reached almost 38 cm , pleease include any info on the person you know with this similar condition, and if rituxn was used as well as i am still waiting to see how we will proceed for the rest of my life , ... also my ferritine pre op was about 560- 600 post opp i dont know yet the doctors are more worried about thehg stabalizing , ....Thanks a lot!
Ric
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Hi Ric,
Your case is very unusual in that your spleen was destroying all your blood cells. Has any explanation been given why your white cells and platelets were also destroyed? I hope you will keep us updated on any further test results. Also, have you had symptoms of thal throughout your entire life? You mentioned the osteopenia. How long have you had it?
Have you started rituxan yet? Rituxan is a very serious drug that can have severe side effects but patients are often nursed through the side effects of the first treatment and then continued for the full length of the treatment.
This is the website of the company that manufactures rituxan. It gives the side effects and prescribing information.
http://www.gene.com/gene/products/information/oncology/rituxan/insert.jsp
This is a site that has many comments from patients who have used rituxan. You will see that many had a serious reaction to their first treatment but were able to continue.
http://ubb-lls.leukemia-lymphoma.org/ubb/Forum19/HTML/000612.html
Also, to clarify, thal major isn't passed on by one person. The thal gene may have been passed on by your ancestors but it takes two parents carrying the thal gene to produce a major. There is no thal major gene. It is a combination of two genes, one from each parent.
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Dear Andy ,
Thanks for all info all is good with rituxan 4 treatments great hb counts and wbc and plt as well, the treatments may be repeated after 6 month absorbtion periode to what effects are osteopenia is mild and contolable in my case with supplements and intravenous premiterate( sorry not sure the name) , it is the iv version of Fosamax , and i will get this once a month , subretnal hematomas seem to be healing fine as well , so so far so good , it is the hemolitic anemia that still eludes the reaserch done and will have to wait to see what levels hb stabalize at, as for rituxan contrary to the effects experienced by many i have none at all during any infusions i had, apart from sleepenees and this is due to the benadryle as prevention , the spleen was found to be reducing all counts in my blood at for no apparent reasons pltlets and rbc were transfused regularly as well as IGG over 15 days no chg in any numbers and i was neutropenic for this period as well. I currently take 5mg of folic acid daily, im on taper of predizone from 50 mg to now 25mg i decrese 5 mg every week, for pain i take dilaudid dur to spleenectomy wich was a 42 stich incision and i take a stomach liner as well(zantac)
I am glad to have found your site and be able to share info its hard especially after a difficult hospitalization , family and my Fiancee went through bad time just getting back on our feet now thanks for this place i can call home it feels great to talk about this as i have so many questions.
Riccardo
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Hello Andy and everybody else,
It has been a long time. There was so much going on around me and my family, so I didnt have the time to answer your questions regarding my son's development.
So far hes doing fine. There are no changes on his skeletal and physical development. Well he gains only a pound since last November. I dont know how normal this can be, but other than that he is full of energy even if his Hb is low. He had a surgery last month his adenoids were removed. We decide to follow Dr. Vichinsky protocol and put him on transfusion protocol for six months starts from this month. The first transfusion following the protocol was on April 11. They give him 2 units of red blood cells and I was surprised because the Hb after the transfusion was 10.3 with 6.9 before that. They were expecting to go up to 12, 13. . I dont know if this makes any sense, but notes something that I just need to share with you. My sons blood type is A+. When he is transfused with type A the Hb didnt go up and it didnt lose for a long time. When hes getting type 0 it takes 6 to 7 weeks for the Hb to go below 7 with 11 Hb after the transfusion.
He will have another surgery this Friday his doctor recommended that we have to place a portacath catheter, so they dont have to poke him every time and he may need another transfusion during the surgery.
Yes we are planning to have another baby. I just start my In-vitro Fertilization and Im praying the cycle to be successful. If we are lucky and blessed with another child yes we are planning to save the cord blood.
I have another question. You mentioned that the father has the beta-zero mutation. Does he have many health issues that would be related to the anemia and is anemia a problem for him?
As for my husband yes hes is having health issues. I dont know if this is related to his Thalassemia trait or
. He is having a skin problem, eczema with allergic reaction all his life. No medication for now was found to help his rash and itchiness to go away.
Please feel free to ask me if I have missed out anything.
Thanks a lot,
Emilia
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Hi Emilia,
I don't know if the eczema is related to thal, but coincidentally, wheatgrass, a natural product used by many thal patients also has shown some benefit for eczema. Dr Chris Reynolds makes a wheatgrass cream that is used for many skin problems, including eczema. I get eczema around my lips during the cold dry winter months and I have been using the wheatgrass cream for a couple years during flare ups and the redness and the soreness, especially, are noticeably reduced. I also use it on dry skin and it seems to lessen the itching and speed up healing. I also use the wheatgrass extact daily, and my skin overall has become less dry. The wheatgrassactive website is at http://www.wheatgrassprofessional.info/default.htm
There are many articles about the uses of wheatgrass. The products can be purchased at http://shop.drwheatgrass.com.au/index.php?main_page=products_all
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:hithere I am a 33 guy from Singapore.
My mother is a Thal minor (ancestors from Indonesia and Malacca) and my father is a Thal carrier (ancestors from Malacca and China). I am an only child as a result of the risk that my parents face if they had more children. A few of my cousins from my mother's side are Thal minors.
I was diagnosed as HbE Thal Maj when I was 3 years old when I was admitted to hospital with bad diarrhoea. However, it was only in the last 10 years that the diagnosis was changed to Thal Int (I think due to the better understanding of the disease).
My Hb levels hover around 8 - 9. I can't remember my ferretin levels but my liver function test always turn out fine. I go for check-ups once a year.
My facial feature resemble that of a Thal Maj. High cheekbones - protruding jaw. The whites of my eyes are always yellowish (high bilirubin count) and I am perpetually green in the face :-\ (jaundiced). I am 1.7 m.
When I was called up for the national service, the medical officer exempted me saying that he did not want the public to think that they have been ill-treating me :sick Another medical officer said that he did not want me fainting around in the office :faint.
I've never been transfused. Although my spleen is enlarged, it is still there! X-rays have found extra cells behind my lungs (the size of oranges) which help me produce more red blood cells in my body (extra-medullary haemopoesis) which ordinary doctors thought were cancer cells! My gall bladder was removed when I was 16 as a result of deposits due to the fast breakdown of the red blood cells. My bones are fragile (broke both my arms 3 times in my life). At 30, I had a liver abscess which again the surgeons blamed on Thalassemia (weak constitution). I now have a high uric acid level, leading to gout, which again was blamed on Thal.:getwell My body is perpetually warm and I need a fan blowing at me even during winter. :tantrum
I have been prescribed folic acid and vitamin C my whole life. About 3 years ago, a new haematologist prescribed oral chelation for me (Desferral). I took 6 tablets a day (at a cost of SGD600 a month!). The drug made me nauseous :puke and made me listless during work hours. I stopped taking it myself.
I lead quite an active life :veil and used to play badminton until gout set in. I have backpacked Italy alone and travel very often. I run my own company with 6 staff in a very difficult and stressful line. My days are filled with meetings and out of office work and my evenings and weekends are spent doing volunteer work at church and 5 other organisations. There are just so many things to do in this world :what that I am still single.
I do not agree with the termination of life as an option given to parents carrying Thal major babies. If my parents had chosen to abort, I would not be here today.
I just thank the Lord for giving me a new day every day and will take each associated problem as they come along.
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Hi Colin,
You are saying these last few lines just because you are intermedia, not getting transfused and you live a better life than the people in the developing countries like Pakistain/India etc.
Here we are not considered as hard working or even marriage material. When a child is diagnosed Thal. Maj. all the parents here can think of is the survival of the child rather than living a normal.
It is a harsh but true fact for the poor people.
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I do not agree with the termination of life as an option given to parents carrying Thal major babies. If my parents had chosen to abort, I would not be here today.
Colin,
To agree or NOT to terminate is the decision of the family. A lot of factor's go in when they are this situation and there can be a lot of opinions on it with varying thoughts.
But, if the pre-natal test shows the baby carrying Thal(Major) - the parents at least have the option of saving the cord blood when the baby is delivered and can get the transplant done. But, I think that would be costly for people who cannot afford it
Another thing is that I do NOT think a lot of Thal(Minor) parent's know they are Thal(Minor) until they have a Thal(Major) child. Infact,there are cases when they have never heard the word Thalassemia. But, now due to a lot of organisations trying to spread the word and due to technologies - it might change
-Narendra
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Another thing is that I do NOT think a lot of Thal(Minor) parent's know they are Thal(Minor) until they have a Thal(Major) child. Infact,there are cases when they have never heard the word Thalassemia. But, now due to a lot of organisations trying to spread the word and due to technologies - it might change
-Narendra
That's exactly my case. About 30 years ago my parents lost my elder brother just because even the doctors didn't had heard about Thal. and diagnosed him improperly. I was lucky to have moved to Saudi Arab where they diagnosed me Thal. and my parents decided not to have any more babies. Had I been in Pakistan 25 years ago; I would have had the same fate as my bro. and my parents would have again tried to get a baby after me.
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Hi my name is Kathleen...
MY daughter Olivia was just diagnosed with Thal Intermedia on 7/27/06. Olivia is 2 yrs 5 mo. we have had our concerns since she was 8 mo old when she got the rotavirus and her hemoglobin was 8.6. Since then it has dropped slowly and now as of yesterday it was 7.1. Unlike my husband I knew I had the trait since i was a child. He was tested when we were 1st married but his dr. said he didn't have the trait and we went on to have children. (we also have a 6 yr old girl & 4 yr old by who have the trait). I always knew something was wrong with her health. She dosen't look like my other children. She does have minor deformities in her forehead area and now we were told the dr. can feel her spleen. Although her hemoglobin is at 7.1 the drs. do not want to tranfuse her because eventhough she is growing slow she is still growing. I guess they feel she is stable right now. We feel so overwhelmed and scared, so any comments or experiences would be helpful to us.
Thank you Kathleen
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Hi Kathleen,
Where is Olivia being treated?
I'm troubled by the fact that she is not growing at a normal pace and also exhibits some skeletal deformity at such a young age. The Hb level is also very marginal. I would suggest a second opinion. Beliefs about how to treat intermedia vary greatly, but this seems to be a serious case of intermedia to be exhibiting such symptoms at an early age. The spleen is enlarged because her body is overproducing deficient red blood cells in a mostly futile attempt to raise her Hb. These cells are destroyed by the spleen, thereby enlarging the spleen.
Keep Olivia on a low iron diet, as non-transfused thals intermedias often suffer from dietary iron overload due to over absorption in the gut...the rate may be up to 100 times what a non thal would absorb. This can create levels high enough to require chelation to remove the excess iron.
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Kathleen,
Do not feel scared and you have come to the right place. There are quite a few patients who have had different experiences with Thal(Intermedia). What type of Thalassemia(Minor) do you have? I think sometimes the diagonosis for trait is NOT done properly. I have heard atleast one family whose trait testing did NOT show both parents having trait and then later on after DNA testing it was confirmed they both had some form of Thal.
Thal(Intermedia) is better than Thal(Major). Also, you might want to check if using Wheatgrass is helpful in Olivia's case.
-Narendra
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Thank you for your reply....
Olivia is being treated here in Phx Az. The office is Arizonia ped. hem/onc... Just yesterday I asked her Dr. how many pts. they see at their office with thal intermedia or major and he said very few b/c of the pop here..he said in India he saw 5 transfuse pt a day. What also worries me is that before her dx they said she had an iron def. and had her on iron therapy....I asked the dr. adout this and he said it was for a short time that he dosen't think that it would affect her but the are checking her iron level now (we don not have the results yet) and he is starting her on folic acid.....Its funny that you suggested a 2nd opinion because I have this feeling it more than what they say.....they did x-rays and felt that the bone deformities are mild and to tranfuse now would be for cosmetic reasons only???????? As for her growth she was in the 5-10% up until Feb 06 now she is in the 10-25% and she is growing in height and he was pleased with this......I have been looking for a new dr. here I have to keep searching....Thank you again!
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I don't know if you have been there but Phoenix Children's Hospital does treat thalassemia. If you find you are not happy there, you might consider contacting the Oakland Children's Hospital and ask if your child's records be reviewed to see if they might suggest a different course of treatment. In Intermedia, the individual doctor plays a major role in determining whether or not to transfuse.
You can also contact Eva Chin at the Cooleys' Anemia Foundation and ask for referrals in your area.
eva.chin@cooleysanemia.org
from http://sickle.bwh.harvard.edu/thalover.html
Thalassemia intermedia. Thalassemia intermedia is a confusing concept. The most important fact to remember is that thalassemia intermedia is a description, and not a pathological or genetic diagnosis. Patients with thalassemia intermedia have significant anemia, but are able to survive without blood transfusions. The factors that go into the diagnosis are:
* The degree to which the patient tolerates the anemia.
* The threshold of the physician to transfuse patients with thalassemia.
With regard to the tolerance of the anemia, most patients with thalassemia have substantial symptoms with a Hb of much below 7 or 8 gm/dl. With hemoglobins of this level, excess energy consumption due to the profound hemolysis can produce small stature, poor weight gain, poor energy levels, and susceptibility to infection. Further, the extreme activity of the bone marrow produces bone deformities of the face and other areas, along with enlargement of the spleen. The long bones of the arms and legs are weak and fracture easily. Patients with this clinical condition usually do better with regular transfusions. The need for regular transfusions would then place them under the heading of thalassemia major (see below).On the other hand, some patients with marked thalassemia can maintain a hemoglobin of about 9 to 10 gm/dl. The exercise tolerance of these patients is significantly better. The question then becomes whether the accelerated bone marrow activity needed to maintain this level of hemoglobin causes unacceptable side-effects such as bone abnormalities or enlarged spleen. This is a judgment decision. A given patient at the critical borderline would be transfused by some physicians to prevent these problems, even if they are slight. The patient then would be clinically classified as having thalassemia major. Another physician might choose to avoid the complications of chronic transfusion. The same patient then would be clinically classified as thalassemia intermedia. The patient has thalassemia that is more severe than thalassemia trait, but not so severe as to require chronic transfusion as do the patients with thalassemia major.
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Thanks for that info. We have an appointment on Aug. 14th at the University Of AZ medical canter.....We did see a different dr today at our drs office and he suggested that we try Olivia on Hydroxyrurea. He said that he has had many Thal Intermedia on this drug with great results. Is there anything that you can tell me about this or is there anyone out there on this we would like to know if it is working.....
Thanks
kathleen.
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Hi Kathleen,
Andy has discussed that Hydroxyurea is used for Thal. Inter. He also pointed to an article for it's use with Thal. Major. I think you should read that thread as it might have useful information of how it is better for Thal. Intermedia. The link to the thread is http://www.thalassemiapatientsandfriends.com/index.php?topic=253.msg1598#msg1598 (http://www.thalassemiapatientsandfriends.com/index.php?topic=253.msg1598#msg1598)
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Hydroxyurea can raise fetal hemoglobin levels in thal patients. It has mostly been used in intermedias but has been used in some trials with majors also. It often eliminates the need for tranfusions. Wheatgrass is also known to raise fetal Hb levels. I would highly recommend wheatgrass shots from wheatgrassactive. If hydroxyurea is offered as a treatment it is very much worth considering.
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Once again thank you so much.....my husband and I are going to go ahead with the hydroxyurea !!!! I pray to God it works for her we wont give up!!!!
I also mentioned the wheatgrass to my dr. and he didn.t know much about it but he was going to reasearch it.
Thank you
kathleen
PS....I spoke with Eva Chin this morning and she is tring to put us in touch with a family here with a thal child...we are also in the process of scheduling an appointment with Phx Childern's Hosp.
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Hi everyone!!!!
I wanted to let you know that Olivia is on HYdroxyurea for 20 days now. We had her CBC and her hemoglobin went from a 6.7 to a 7.6 her white count and plt count is well within normal range.
This gives us hope that this will work for her. Her Dr. was hoping for a higher count but we are happy and feel like this is the answer to our prayers right now,we stilll pray and take it day by day and day and keep positive. We were seen by Dr. # 1 who has been treating her for Tahl intermedia all along and 3 weeks ago when her count was 6.7 he did not want to do anything but wait and watch. I could not do that so he reffered us to speak with Dr. # 2 who is another Dr. within the same practice who has had alot of experience with hydroxyurea when he practiced in Detroit. So I did as much reasearch as i could and spoke with Eva Chin asking her if she could provide me with any info on this drug & she told me about Dr. Titi SInger who has spoken about hydroxyurea. So I e-mailed a Dr. Titi Singer and we received positive information and this along with our reasearch helped us to decide to give it a try. I am happy we did !! If this drug keeps Olivia tranfusion free for a year or any amount of time I will be thankful.
Kathleen Gulko
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Hello Kathleen,
Hb of 6.7 to a 7.6 is pretty darn low! Since your child is small that may not seem to be an issue, but I think she needs a normal level of Hb to ensure proper growth and development. In any case, staying off the Transfusions is the best thing that can happen to a Thal. but make sure her growth and development is following the normal trend.
Take care.
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Hi,
In response to the last post re Olivia.....at her last visit Olivia gained 1/2 pound and is now 26 lbs and in height was 3months ago 34 inches and is now 36 inches. She is active and wants to eat all the time which she has never done before. She also continues to take folic acid and is on low iron diet. I do think she is growing at a slower pace and is smaller than my other children were at this age. We only continue to hope and pray that the medicine works so that she does not need transfusion for some time. We hope to see that her hemoglobin increase at her next visit in 2 1/2 weeks. Thank you for your input it does help us to hear this from people with expierence and who are going through some of the things we are.
Our best to all you are in our prayers
Kathleen
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Kathleen,
I'm glad to hear she has an appetite now. That is very good news. I hope the hydroxyurea raises her Hb some. Staying off transfusions as long as possible is definitely the best strategy when dealing with intermedia, especially in children.
Keep feeding her as much as she wants and make it nutritious. :happyyes
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Hi Kathleen,
I'm a thal intermedia(Beta + HbE), 31 years old. I wanted to tell you that during my childhood, at times my Hb use to go lil low than average but then it use to pick up. My growth was slow as compared to other classmates till middle school. But then at High school I picked up.
Don't be disheartened. I wanted to tell you that life for me was/is a little tough(health wise) but definately not bad.
I understand how you feel at this time, but please be strong. Olivia will be OK. Hydroxyurea treatment is definately a better choice than transfusions and you should feel lucky if the treatment suits Olivia. There are ppl who do not respond well to even this treatment. Hence, you have one reason to be happy :)
Keep us posted and ask any questions if you have.
Hallu.
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Hello Kathleen,
That is a good news that Olivia is active and gaining weight. You are doing great. Hopefully Hydroxyurea will improve her Hb and she won't require any Transfusions at all. Just like Mr. Andy said, give her a good nutritional diet. Keep her happy and everything will be just fine.
Take care!
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Hi everyone ,
Wow, thank you all for your support it is amazing how much it helps. I am now in contact with another family here in Arizona who have a child with Thal major and they are very helpful as well.
Thank you
Kathleen
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Kathleen:
I was diagnosed beta thal intermedia when I was a child and my hemoglobin levels were about 6 but I was never transfused. This was in the 60s. However, when I was sixteen (1970) I had my spleen removed due to hypersplenism. Since then I have had post-splenism sepsis three times and pneumonia once. Last fall when I had pneumonia, my white cell count was over 80,000. I have also had the other classic thal issues: blood clots, leg ulcers, gall stones, iron overload, etc. It is only by the grace of God that I survived these illinesses.
I have read that now doctors prefer to transfuse to keep the hemoglobin levels higher to slow down or eliminate hypersplenism. Or if the new therapies can keep her levels high enough to eliminate hypersplenism. I would definitely get a second opinion.
If you have not been in contact with the folks at the Cooley's Anemia Foundation, please contact them for help in finding someone that can treat your child(ren). Eva Chin (www.cooleysanemia.org or you can email them at info@cooleysanemia.org) can help you find a doctor and can help you get a book called "About Thalassameia". This book has great information about this disease.
I am 52 now and I must say for the most part I live a "normal" life, if thals can be considered normal. In July, I purchased a 1999 Harley Davidson Electra-Glide Classic with only 4,340 miles on it and have planned an eight day road trip from Ohio through West Virginia, Virginia, Washington DC, Pennsylvania and back to Ohio.
I think the most important thing for your child is to find someone you understands her condition and give her the treatment that she needs. If it is possible to treat her early, this may eliminate some of the issues that she might face later in life. There is so much support out there today compared to 1960s use it to your advantage.
Ciao!
Barry
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Hello and thank you for your post....
I wanted to let you know that on friday my family and I were invited to what I believe to be the first Cooley's Anemia meeting here in Phoenix Arizona. Gina Cioffi was there and she was great. She was able to provide us with alot of informaiton. Most of which was new to us being that we are just begining to go throught this. It was so nice to meet people here and hear their stories. It does worry my family that the Drs we have here may not be as informed as other drs in other states where there are more people with Thal. All of the families there have suggested that we go to Oakland to see Dr. Vinchinsky.(which we are looking into). Olivia has another appointment on Wed of this week. We are hopeful that her hgb has improved even more. She looks great so full of energy and the color in her face in nice and pink.
Thank you for you posts and your support.
Kathleen
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I agree that a consultation with Dr Vichinsky would be worthwhile. The Oakland Children's Hospital has one of the top thalassemia centers in the world and offers a comprehensive care program for thals that addresses all the physical and emotional issues that arise. Perhaps some cooperation between Oakland CH and your local center can be arranged.
Please do take heart in the fact that your child is improving since you sought further care. And also, the new involverment of the Cooley's Anemia Foundation in Phoenix is a major positive for you.
All in all, things are looking very positive for Olivia. :happyyes
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Hi,
I am thal inter. Delta beta. The delta is what makes me a thal inter. I was diagnosed at the age of 4 by Dr. Bernadette Modell in London. My diagnosis itself is another story. There were no indications of thal or any other illness, but it seems my nails were not as pink as the rest of the kids, so my parents took me to the doc and then Dr. Modell and the rest is history (BTW I am the only child to my parents and even my little finger's nail matters) :smile2. When diagnosed my Hb was 7.8, so I got transfused. My trans varies from 45 days to 2 months or more depends on the count. Never goes below 8.0. I had a spleenectomy in CHU, Lausanne, Switzerland.
If you have seen my pic, you will see I have no feature that indicates thal. My height and weight are normal and my build is good. I am a strong kid ;D. Now of course, thanks to my freaky cricket, things are not so good, but it is picking up. I am walking on my own and have got back to work. Earlier I used to go to the gym but that's out. The ortho said I could use the treadmilll after a year. I rarely feel tired but I need a lot of air. I get claustrophobic in crowds. Hematos put it down to thal. I am not so sure, even my mom gets claustro in crowds.
I hope things remain the same for me and I get back to my normal, energetic self.
Peace and health to all!
Regards,
Namitha
I am posting my baby snaps so you know how I was as a baby.
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Hi everyone,
I just wanted to give and update regarding Olivia....1st though I don't think I mentioned that Christine and I are 1st cousins (Lauryn"s Mom) I was whith her yesterday when she was told that Lauryn would need her 1st transfusion very soon. I have to say i was very proud of Christine and how she handled herself. I do talk to her and try to help keep her positive. Also I am so happy that we went to Phoenix Childrens' Hospital. We meet with Dr. Terry Wood. He has 5 Thal Major patients that he treats where as our old Dr. didn't have any. He does communicate with Dr. Vinchinsky and he recommended that we do see him at least once a year and we are planning to do so.
I told Dr. Wood that Olivia was on Hydroxyurea for 8 1/2 weeks and Folic acid and he didn't know too much about the drug and we were talking about maybe taking her off and transfusing her if her Hb didn't raise any more. Well now for the good news......Olivia's Hb was a 9.0 it has not been this since she was 12 months old !!!!!!!!! So we are going to keep her on the medicine and Dr. wood will test her again in 2 weeks. This is so hopeful for us! We still live life day by day, however, this means no transfusions right now and thats all that we prayed for.
Thank you all again for you support and information
Love Kathleen
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Hello Kathleen,
That's a great news! Hydroxyurea is working slowly on Olivia. I just wish it could raise and maintain HB up to at least 10-13g/dl because 9g/dl isn't that good for a growing kid, but on the bright side it is not low either that transfusion is mandatory; but a TransX could help a lot.
Take care, Peace!
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Hi everyone.....
I hope everyone is doing well!
I wanted to give you all an update regarding Olivia.....her Hb was 9.2 today and this is up from 2 weeks ago when she was at a 9.0. She does have a cold, however she looks so good...where as in the past she would look terrible. She gained 1 lb and a 1/2 and is now 29 lbs. She has gained a total of 9 lbs this year! Her dr. is checking her liver enzymes( b/c the hydroxyurea could increase the level), ferritin and her fetal hb level. Her dr. wants to keep her on the hydroxyurea for 1 year and then take her off for a short time to see how she maintains. I want to find out if this is even possible... can she maintain without the meds???? I am going to e-mail Dr. Singer to see what she has to say about this. I will let you know.
Love Kathleen
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Hi everyone....
I hope everyone is doing well. Just something positive that I would like to share with you all. Olivia has been sick ( we all have been). Normally this would mean she would be pale, very tired and then a trip to the doctors and a long recovery. This time she is feeling much better sooner, she is not pale, still very active and most of all no trip to the doctors. We are so happy....this is all since she is on the Hydroxyurea. We also had her liver enzymes checked and they are fine and her ferritin level was 196. The medication has not had any negative effects on her to date, it has been good all around.
Our prayers to all :wink
Love kathleen
PS....Christine .....Cute pic of Lauryn.....she looks just like Anthony :biggrin
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Hello Andy,
This is a really good site for info,
My grandsons were diagnosed recently with Hemoglobin H disease which was a big shock to the family because here in Cyprus people who get married have blood tests to see what type they have and to see if the children they may have could be affected and how. My daughter and husband were told their children would be aneamic but nothing more as my daughter has Alpha minor and her husband has Beta. We dont understand what happened as this according to the doctors shouldnt be. My husband is cypriot and has Alpha trait which he didnt know about until our daughter was diagnosed in her teens, I am english so didnt have any knowledge of this. We came to live in cyprus and it was diagnosed here. What I am shocked about is when the children were born nobody thought it neccesary to check the childrens blood to see what trait they had. My one grandson is 5yrs and weve only just found out. His spleen is enlarged and has been tired and yellow looking this is how we found out with a routine blood test. The other one is 7mths and had feeding problems and water infections and again routine blood test revealed he had low hemoglobin. They both had electrophosis test and they have come up with Hemoglobin H. I dont know if this condition is intermedia or not as its all new to me. They will be attending the Thalassemic clinic in Nicosia when they come back from the UK. They have gone to the UK because the baby has been diagnosed with Plagiocephaly and was born with it and they are getting treatment there. I read about bone deformity and am now wondering if this is connected in any way. They found out about the hemoglobin H the day before they were going to the UK so my daughter doesnt really have any real understanding of this conditon with their blood.
If you have any advise or info for me to pass on to my daughter it would be much appriciated. I will have to wait for them to come back to see the clinic to see what treatment they will have.
Keep up the good work, you sound like a very caring person.
Leandra
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Hi Leandra,
Hemoglobin H disease is perhaps misnamed and is actually 3-gene deleted Alpha thalassemia. For your grandchildren to have HbH it requires alpha thal genes from both parents. Your son-in-law is definitely an alpha carrier if the children are HbH. HbH is compared to beta thal intermedia in its effects. It can range from mild to moderate anemia all the way to transfusion dependent thalassemia. If the more serious Constant Spring gene is one of the genes, the symptoms are usually worse.
The combination with beta thal genes supposedly has no effect as there are two completely different sets of genes at work. However, and I will say this is a BIG however, what the medical experts tell us and what people experience in real life are often different things. The same experts that will tell you that alpha and beta combined will be no problem will also most likely tell you that beta thal minor is not a problem and has no symptoms other than mild anemia. The countless stories we have heard from minors tell another story. One gene beta thals range from no symptoms to to transfusion dependent intermedia. It may be the case with your grandchildren that both alpha and beta thal are causing problems. Even though the two gene groups have nothing to do with each other and don't affect each other, their cumulative effect may be more than current research has demonstrated. Even though there are more alpha carriers than beta carriers, alpha has not been as rigorously studied as beta, due to the fact that beta major is such a severe problem and alpha major results in death before or at birth and little possibility of hope has been held, although in recent years some babies have been saved by in utero transfusions.
I do believe that the combination of both alpha and beta thal can have a cumulative effect in some patients. I would suggest further testing to either rule our or confirm Hb Constant Spring disease and also if possible, to determine the extent of the mutation or deletion of the beta gene. Folic acid is mandatory and iron supplements are strongly discouraged. They will do absolutely nothing for the patients and will cause extensive harm if continued over time. Vitamin E is also higly recommended.
Plagiocephaly may indeed be related to thalassemia.
From http://www.emedicine.com/neuro/topic80.htm
* Secondary craniosynostosis (plagiocephaly) typically results from systemic disorders such as the following:
... Hematologic disorders that cause bone marrow hyperplasia (eg, sickle cell disease, thalassemia)
If this is the cause, transfusions may be necessary to prevent further deformity, as in secondary plagiocephaly, the underlying cause needs to be addressed.
Alpha thalassemia can present a variety of problems depending on the severity. DNA testing is higly recommended to determine exactly what is at work here. There can be major differences between HbH and HbH Constant Spring and it must be determined which it is. I would also suggest DNA testing of the beta thal gene to determine the severity of the mutation.
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Hey Kathleen,
Glad to hear that Olivia is doing better. I am also very glad to see that you are seeing Dr. Terry Wood at PCH. He was the hematologist that took care of all three of us intermedias in my family, back in the 1970's. He was great at taking care of us until we turned the ripe old age of 18. So, to hear that he is taking care of Olivia is a great thing. We are working on putting together the chapter here in AZ, but unfortunately, my brother Dom, has had a hemolytic crisis and is still trying to recuperate. We will keep you posted. If anyone else wants to help head up the chapter at this time, he would love the assistance.
Hope to see the rest of our thal friends soon here in AZ.
God Bless
Mrs. T
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I honestly don't know if my post belongs here, but I'll post my information anyway and add it to the little database. :)
I have Hemoglobin H Disease, an intermediate form of alpha thalassemia.
My Hg counts have always been at a steady 7 point something, though I believe when I was first diagnosed, I was closer to 8.
I got diagnosed with HgH Disease when I was 12 months old because my mother noticed my feet were looking awfully pale. The pediatrician, thinking it was the more typical iron-deficiency-related anemia, put me on an iron supplement. When my body stopped absorbing the iron and my condition wasn't improving, my mother went back to the doctor and he ordered for extensive bloodwork to be done because he feared I had leukemia.
The results came back and that's when we found out that I had HgH Disease, which is a persistent state of mostly moderate anemia that can worsen with illness and other strenuous factors.
At the time, transfusions were considered more risky and most patients weren't transfused until their Hg levels dropped to 6.
Because my 7 Hg was supposed to be persistent, I was told that my body would adjust on its own to the lower levels and thus, once adjusted, the 7 range became MY normalcy.
I never did transfusion therapy as a child and only 2-3 years ago at age 22 did I do a trial run with transfusion therapy, which temporarily bumped my Hg to 9.6.
I only did transfusion therapy twice and because of increasing health problems, I've been considering going back on transfusion therapy.
The scare with iron overload has been a big deterant in me considering transfusion therapy, but when I chose to go on a trial run for transfusion therapy, it was because I was dealing with severe depression that wouldn't go away with typical psychiatric care and bouts of frequent and persistent illnesses.
It would seem the older I get, the more marked my thalassemia symptoms have gotten to the point that my hematologist tested me for Constant Spring and my primary care physican ordered a battery of tests including HIV tests to rule out an auto-immune disorder/illness.
The symptoms haven't been so severe lately though the depression still kicks major butt in my life, but to get to this point, I've had to take exceptionally good care of myself and eliminate a lot of stressors.
I never gave transfusion therapy much thought, but now that 4 years have passed and I'm still dealing with severe chronic depression, I'm really considering the option.
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Zadkhi,
Does depression run in your family? You may have a kind of chemical genetic depression. My mother suffered from depression on and off her whole life, and she did not have thal. I don't know if there is a correlation with thal and depression or not. It's an interesting subject.
I know that I was getting depressed a few years before I started transfusions because I was so chronically ill. hope you can find some relief from it because it is miserable to have. Maybe transfusions would help. Jean
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My mother's also encountered bouts of depression, but seemingly not nearly as severe as mine are and were.
According to my psy doc, the depression probably got its roots in me when I was younger and just didn't really 'show itself' until I got super stressed out, sick all the darned time, and was going through one of the roughest spots in my life at the time.
The doctors have been hesitant to treat me typically because they feel my depression might be provoked by the string of chronic illnesses I caught a few years ago. Only problem with that theory is, I'm not as sick anymore and the depression, while not so terrible, is definitely still here. :dunno
It's really kind of weird and it makes it harder to diagnose and treat properly.
But I HAVE done psychiatric treatments, so I haven't let it go unchecked. We're just not sure from which avenue to treat it from. :huh
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Zadkhi,
If you can see no reason in your life why you feel depressed it does increase the likelihood that it is caused by your low hemoglobin level. Have you ever tried anything to raise your Hb? The most common drug used is hydroxyurea and raises the fetal Hb. One other thing often mentioned is wheatgrass. The tablet and extract forms are the most palatable. Many thals have tried wheatgrass and some do get an increase in fetal Hb and some who don't say that it makes them feel better in general. More energy, less headaches and better health. The tablets are fairly cheap and I think are worth trying for awhile, although those who have researched wheatgrass say the full effects are not felt until it's been used for one year.
I am glad to see you and Jean communicating because I think you can benefit much from her experience and that is the whole point to this group. :smile2
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Hi you all, :biggrin
Just wanna know of what to ask the doctor to know my son's gene mution? I have yet to know in detail about his gene mutation! ??? Maybe once i have the result, only then i can put it in this group for discussions and opinions of others.
On what test should i ask for the result for HB electrophoresis test , DNA test or any other tetss besides these? :-\
Really appreciate it
Later
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You will need a DNA test if you want to determine which mutations your son has.
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Andy,
I was diagnosed Intermedia a age of 27. My Hb level at that was 9. I had been anemic all thru my life but never transfused as by good diet I managed to be on Hb around 9. The lowest I went was 7 when I was a kid so my GP gave me some Iron tablets. That time no one realised I could be intermedia.
Last year I went to a haematologist and then was diagnosed Intermedia. He prescribed me Folic acid which I take regularly.
I have the reports but not sure how he diagnosed me as Intermedia. ???
Thanks
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Manu,
The diagnosis may have been based on your low Hb along with the results of a hemoglobin electrophoresis test. If you have the test results, I can take a look at them. Good diet and some supplements may be enough but as you grow older you will need to watch your Hb levels. Some intermedias do require transfusions as they age.
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Andy could u tell me what n where to chk in the report for the figures.
I would be more than happy if u want to take a look at my reports.
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The following values would help:
MCV
MCH
MCHC
HbA
HbA2
HbF
A DNA analysis would be the ultimate confirmation.
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Dctr did'nt ask me to go for DNA test.
Here are the results when I first met him last year Oct. He used to see me every two weeks. Its been 5 months I have'nt seen a haemotologist. Will be seeing one soon. The last test results I had are also included. I do not have results for HbA, HbA2 and HbF.
Initial Latest
MCV 63.8 64
MCH 20.4 20.3
MCHC 31.3 31.6
HbA 92.8
HbA2 6.2
HbF <1
Thanks in advance Andy.
Manu
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Hi Manu,
Now I am curious also how the intermedia diagnosis was reached. The low level of HbF does not indicate intermedia. Normally, an intermedia would have a higher HbF level, usually over 20%. These levels of HbA, HbA2 and HbF would more likely indicate thal minor. The only level that is unusual for minor is your hemoglobin level and even that is on the high side for intermedia at 9, although a drop to 7 would be more like intermedia.
Have you ever had iron studies done? These would be able to confirm or rule out co-existing iron deficiency. Iron deficiency along with beta thal minor could cause these test results. Another possibility is that you are a beta zero minor. This would mean that one of your beta hemoglobin genes is totally useless and produces no hemoglobin at all. When this is severe, some patients have had to take transfusions even though technically, they have only one beta thal gene. This would be considered intermedia, since intermedia is a symptom based diagnosis and not based on whether one or two genes are mutated or deleted. So, in your case, if your low Hb is caused by thalassemia alone, you could be diagnosed as intermedia, even though it may not be exactly the same as most intermedias who have two hemoglobin genes affected.
DNA analysis would most likely sort this out. If iron studies have never been done, these should be done before thinking about DNA analysis.
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Thanks for interpreting the results Andy.
I never had any Iron studies done but in my report I do see following figures ..... Hope it might help
Iron and Iron Binding cap
Ref range
Iron, Total 101 40-175 mcg/dL
TIBC 432 250-450 mcg/ dL
Transferrin Saturation 23 15-50%
Ferritin 11 0-20 mm/hr
When I see the dctr then I will ask him to do Iron studies and possibility of DNA analysis.
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Hi Manu,
Those are the iron studies results. I think the reference range for the ferritin is not for ferritin. The reference of mm/hr is actually for the Erythrocyte sedimentation rate, which isn't relevant here. Ferritin is measured in units that look like this for the normal range for women. 15 - 49 yr: 12 - 156 ng/mL
your level of 11 is low and would indicate iron deficiency. Your TIBC is in the high range which also indicates iron deficiency. Your transferrin is also in the low end of normal which also would mean low iron. However, your serum iron is normal. It is a bit confusing. Do you know what your Hb level was when you had these tests done?
From your various test results I would think you are a thal minor with possible iron deficiency. The minor is most likely beta zero, if you are a minor. I really think the diagnosis of intermedia is based on your symptoms. Depending on how old these iron tests are, you may want to have another set done. If that isn't conclusive, DNA analysis should be able to sort out what thalassemia mutation(s) you have.
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This sounds like a ray of hope for me :smileblue
Thank you for correcting the wrong reference range. Yeah its ng/ mL.
so my Ferritin result was 11ng/mL.
These tests were done in Oct 2007 and that time my Hb was 9.6. This is the first time ever I have gone for such extensive blood work.
After taking Folic acid and iron tablet prescribed to me by my doctor my Hb did go up to 10.3. Not sure what its right now so I am really looking forward me meeting the dctr soon and will ask him to do all these tests again. Will Keep you posted as to what the results are now.
Andy really appreciate your help for my correct diagnosis. :thankyou
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Hello Andy,
With reference to our previous conversation, I wanted to update you that recently I got my blood work results and my new heamotologist says that my results show that I am a Beta Thal Minor and not an intermediate as to what my previous dctr had told me. So here it confirms what you had said previously after seeing my results..
I will keep you updated if there are any further changes/ updates. Now I see my heamotologist only once a month for regular checkups.
Manu
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Manu,
Good to hear that. You might want to test your partner for thal(minor) so that you both can plan accordingly for children. If your partner also carries a thal gene, there is a 25% chance of having a thal(major) child
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Hello Narendra,
Yes, as I am pregnant right now, so we got my husband also checked for Thalassemia and his results came out normal. Thank God
So the dctr says that at maximum our child can be a minor. He is regularly checking my blood results. Though I came to know that my HB level have dropped from 10.6 to 8.8 but dctr says thats bcz of dilution of blood but my RBC count have same nbrs as before.
So hoping for the best and will keep all posted abt the progress.
Manu
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Manu
Please go thru this to check all the thal variants.
Hi Bharat,
Has all possibility of you carrying any thalassemia mutation been ruled out? Have you also been tested for other non thal varaitons, like the lepore trait or Hemoglobin E? If none of these are a possibility and only the mother carries the trait, your child cannot be a major. Both parents have to be a carrier to be a major. Your child would have one thal Hb gene and one regular Hb gene, making the child a minor, the same as when a major has a child with a non carrier. And most of the moms in this group who are majors will tell you their kids are normal minors.
However, if you read the recent posts in this thread by MicheleKH you will see a different story. This is similar to what we heard from Barry at our previous site.
http://groups.msn.com/ThalassemiaPatientsandFriends/general.msnw?action=get_message&mview=1&ID_Message=3394
And this is why the defintion of intermedia is so vague. They tell us about intermedias who have only one thal gene. Cicci recently told us that the doctors said his daughter could be an intermedia like he is, even though the mom is not a carrier. If a person with only one thal gene can be an intermedia and require transfuions, then our definitions need serious revision. I think the problem lies in that the condition is relative to the extent of mutation on the gene and also in the cases where the thal gene is a dominant gene, as marientina brought up.
This has also been in our old discussions concerning the varying severity of minor. Some people are very much worse off than others who supposedly have the same condition. I think widespread studies on the actual severity of the gene mutation in thals would be very helpful in understanding the these wide variations. Is it possible to know through genetic tests how severe the variation is in one's genes and counsel prospective parents accordingly?
I think most people will tell you that your child will be a minor. These other cases happen, but are not typical. Does anyone know if it is possible and also accessible for people to have gene testing done for thal genes? It seems that this knowledge could be useful in many ways.
I think some of the moms out there can tell you about their pregnancies and what is required as far as transfusions and chelation.
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We first found out that my son had Thal when he was just 4 years old. At the time I was pregnant with my daughter. After several blood tests the doctors realized that Dimitri had Thal minor but something else was also interfering with it causing the ferritin to stay really high. We knew his father had Thal minor so they kept looking to me to find anything. I do not have thalassemia and 3 DNA tests done on me lead to 7 years of studying Dimitri and what was interfering and causing him to be more sick. When Dimitri was 6 years old a Doctor in Arizona, USA did a bone marrow aspiration on him and found his Sideroblastic very high levels. At the time I didn't understand what Sideroblastic was. The report was sent back to Dimitri's primary doctors in Greece, and then we began to talk and understand more about Sideroblastic and how it was causing his body to react as a Thalassmia Intermedia. In time I changed Dimitri's Primary doctor to the doctor here in Utah, USA. About 2 months ago he did another Bone Marrow aspiration on Dimitri, but the strange thing he did not see the Sideroblastic ring on his blood this time and is having them re-test it. The thing is with the report from the doctor in Arizona and the way Dimitri’s blood test are he insists that we get treatment for him as a Thal Intermedia to prevent any more damage to the body. They believe that I am a carrier of Sideroblastic. My daughter still has yet to be confirmed if she has the same condition as her brother.
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Hi,
I am a 44 year old that was diagnosed with Thal Minor in 1974(?), around 1986-I heard the term Thal Intermediate for the first time. I had a spleenectomy/cholestectomy in 2004. In 2005, with the birth of my second child, I was diagnosed with Portal Vein Thrombosis/Messenteric Ishcemia. I was placed on Hydrea without any changes to Hgb or Platelet counts. I was on Coumadin for several years, and then was told the chance of recurrent clotting was slim. They mainly blamed it on my 'condition' and being pregnant. I was off anticoagulants for about 5 months and developed a large blood in my cecum resulting in a right hemicolectomy and removal of the illeocecal valve. After 22 days in the hospital and now a lifetime of GI problems, my Hbg are lower than they have been.
I was told I am heterozygous for the codon 39 CAG>Tag or Gln39term Beta Thalassemia mutation.
Also heterozygous for the a-globin gene triplication of the anti-4.2 type ( aaa anti_4.2/ a a )......Whatever that all means, but was told this confirmed my Thal Intermediate status.
Here a copy of my lastest labs----Love the Hgb of 7.2---yes, tired, short of breath, all the usual. I have developed quite a few antibodies to blood from intermittent transfusions. Now, awaiting further phone calls from doctors regarding transfusion dependency. Any thoughts are respected.
Linda
LAB:
Recent Results (from the past 72 hour(s)) CBC (WITH DIFF) Component Value Range • WBC 6.5 4.0 - 10.0 (x10(3)/mcL) • RBC 3.13 (*) 3.93 - 5.22 (x10(6)/mcL) • Hemoglobin 7.2 (*) 11.2 - 15.7 (gm/dL) • Hematocrit 23.7 (*) 34.0 - 45.0 (%) • MCV 75.7 (*) 79.0 - 94.0 (fL) • MCH 23.0 (*) 26.6 - 32.2 (pg) • MCHC 30.4 (*) 32.0 - 36.5 (gm/dL) • Platelets 832 (*) 145 - 370 (x10(3)/mcL) • RDWSD 77.9 (*) 35.0 - 46.0 (fL) • RDWCV 30.9 (*) 10.9 - 14.4 (%) • MPV 11.3 9.0 - 12.0 (fL) COMPREHENSIVE METABOLIC PANEL (NON-FASTING) Component Value Range • Glucose Lvl 79 60 - 199 (mg/dL) • BUN 11 8 - 18 (mg/dL) • Creatinine <0.20 (*) 0.70 - 1.20 (mg/dL) • Sodium 137 135 - 145 (mmol/L) • Potassium 3.5 3.5 - 5.0 (mmol/L) • Chloride 106 98 - 107 (mmol/L) • CO2 21 (*) 22 - 31 (mmol/L) • Anion Gap 10 5 - 15 (mmol/L) • Calcium 8.8 8.5 - 10.5 (mg/dL) • Total Protein 7.1 6.4 - 8.3 (gm/dL) • Albumin 4.0 3.2 - 5.2 (gm/dL) • AST 51 (*) 0 - 30 (unit/L) • ALT 28 0 - 30 (unit/L) • Alk Phos 69 40 - 104 (unit/L) • Total Bilirubin 5.4 (*) 0.2 - 1.3 (mg/dL) • Bili, Direct 0.2 0.0 - 0.3 (mg/dL) • Estimated GFR >60 >=60 IRON AND TIBC Component Value Range • Iron 227 (*) 30 - 150 (mcg/dL) • TIBC 274 250 - 450 (mcg/dL) • Iron Saturation 83 (*) 20 - 50 (%) RETICULOCYTE COUNT Component Value Range • Retic Ct % 8.4 (*) 0.5 - 2.4 (%) • Retic Ct Abs 0.280 (*) 0.027 - 0.095 (x10(6)/mcL) • Immature Retic% 49.0 (*) 2.3 - 15.9 (%) • Reticulated Hgb 22.0 (*) 28.8 - 38.9 (pg) • Plat Immature % 2.8 0.0 - 7.4 (%) HEMOGRAM Component Value Range • WBC 10.8 (*) 4.0 - 10.0 (x10(3)/mcL) • RBC 3.29 (*) 3.93 - 5.22 (x10(6)/mcL) • Hemoglobin 7.1 (*) 11.2 - 15.7 (gm/dL) • Hematocrit 24.6 (*) 34.0 - 45.0 (%) • MCV 74.8 (*) 79.0 - 94.0 (fL) • MCH 21.6 (*) 26.6 - 32.2 (pg) • MCHC 28.9 (*) 32.0 - 36.5 (gm/dL) • Platelets 612 (*) 145 - 370 (x10(3)/mcL) • RDWSD 85.8 (*) 35.0 - 46.0 (fL) • RDWCV 30.4 (*) 10.9 - 14.4 (%) • MPV Not Measured 9.0 - 12.0 (fL) DIFFERENTIAL, MANUAL Component Value Range • Neutrophil % 59 34 - 71 (%) • Lymphocyte % 15 (*) 19 - 53 (%) • Monocyte % 18 (*) 4 - 13 (%) • Eosinophil % 5 0 - 7 (%) • Basophil % 1 0 - 2 (%) • Myelocyte % 1 (*) 0 - 0 (%) • Promyelocyte % 1 (*) 0 - 0 (%) • Neutrophil Abs 3.8 1.5 - 6.3 (x10(3)/mcL) • Neutr Abs (ANC) 3.83 1.50 - 6.30 (x10(3)/mcL) • Lymphocyte Abs 1.0 1.0 - 3.6 (x10(3)/mcL) • Monocyte Abs 1.2 (*) 0.2 - 1.0 (x10(3)/mcL) • Eosinophil Abs 0.3 0.0 - 0.5 (x10(3)/mcL) • Basophil Abs 0.1 0.0 - 0.2 (x10(3)/mcL) • Myelocyte Abs 0.1 (*) 0.0 - 0.0 (x10(3)/mcL) • Promyelo Abs 0.1 (*) 0.0 - 0.0 (x10(3)/mcL) • nRBC % 301 (*) 0 - 0 (%) • Tot Diff Cell Ct 100 • Plat Estimate Increased • RBC Morphology Abnormal • Macrocytes gtr than 10 (/HPF) • Microcytes 1-5 (/HPF) • Hypochromia Marked • Polychromasia Present (>5/HPF) • Tear Drop Cells 1-5 (/HPF) • Target Cells 1-5 (/HPF) • Schistocytes 1-5 (/HPF) • Burr Cells 1-5 (/HPF) • Spherocytes 1-5 (/HPF) • Stippled RBCs Present (>1/HPF) • Howell-Jolly Bdy Present (>1/HPF) • Pappenheimer Bdy Present (>1/HPF) • Giant Platelets Less than 1 (/HPF) • Platelet Clumps Present • nRBC Abs 19.530 (*) 0.000 - 0.012 (x10(3)/mcL) SCAN, PERIPHERAL BLOOD Component Value Range • Plat Estimate Increased • RBC Morphology Abnormal • Macrocytes gtr than 10 (/HPF) • Microcytes 1-5 (/HPF) • Hypochromia Moderate • Polychromasia Present (>5/HPF) • Tear Drop Cells 1-5 (/HPF) • Target Cells 6-10 (/HPF) • Schistocytes 6-10 (/HPF) • Burr Cells 6-10 (/HPF) • Spherocytes 1-5 (/HPF) • Stippled RBCs Present (>1/HPF) • Howell-Jolly Bdy Present (>1/HPF) • Pappenheimer Bdy Present (>1/HPF) • Giant Platelets Less than 1 (/HPF) • Platelet Clumps Present NUCLEATED RED BLOOD CELLS Component Value Range • nRBC % Auto 276.6 (*) 0.0 - 0.2 (%) • nRBC Abs Auto 29.820 (*) 0.000 - 0.012 (x10(3)/mcL)
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Hi Linda,
I was told I am heterozygous for the codon 39 CAG>Tag or Gln39term Beta Thalassemia mutation.
Also heterozygous for the a-globin gene triplication of the anti-4.2 type ( aaa anti_4.2/ a a )......Whatever that all means, but was told this confirmed my Thal Intermediate status.
This combination of genes varies in severity from a mild phenotype to a severe expression. It is classified as thal intermedia. Basically, the triplicate alpha gene produces too much alpha globin and the beta° gene results in less beta globin being produced, so there is a great imbalance. The result is intermedia. Yours has progressed with age, very much like beta thal intermedia often does. Whereas a beta intermedia might benefit from trying to raise the fetal hemoglobin (HbF) level, by using hydroxyurea or natural products like wheatgrass, raising HbF has a negative effect on those with your gene combination, so there should be no attempt to raise HbF.
What I have heard from thal intermedias in their 40's and older, is that once they start transfusing, they wish they had started sooner, because it made a huge difference in the quality of their lives. There is a trade-off because it does then require compliance with chelation, but most do feel that it is worth it so that they can carry on with life. However, you should also realize that at your current Hb level, your body is going to absorb more iron than it needs, and you may eventually require chelation to remove the iron. Your iron levels already show signs of this happening, as they are higher than normal, but not in an unsafe range. I suspect these levels will rise if your Hb remains as low or lower than its current level. Technically, transfusions are ordered when there are two consecutive Hb tests under 7. You are very close to this now. If no improvement is shown, I would recommend transfusions. Your Hb is too low for you to physically cope with life, and you have to judge this by your own symptoms. Others may manage with an Hb in the low 7's, but many intermedias cannot have anything resembling a normal life at that level. If you do decide to transfuse, after about 10 transfusions, chelation usually starts. These days, the oral drug, Exjade will be the most likely chelator. If it comes to this, we will have some tips about starting on Exjade that can make it much easier to tolerate.
If you have not had your vitamin D level tested, get it done. Deficiency is extremely common and is a factor in osteo disease. Large doses of D are often necessary to reverse deficiency and it is especially common in thals. Deficiency also adds to tiredness, fatigue and depression.
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Thanks. I am starting transfusions this coming week. I have had a complete endocrine work up and have been on High dose Vit D for 4 months. I do have Osteopenia, so I know the Vit D level is important. I also take Vit B 12 injections once a month due to the right hemicolectomy. I am ready for the transfusions, as I know I try to have a normal quality of life, but am too exhausted to enjoy it. Thanks for everything.
Linda
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The classification of thalassemia intermedia has a somewhat vague defintion that has changed over the years and continues to change. I have seen defintions that say it is a two gene thal and others say it can include one gene thal. The symptoms also cover a wide range. Mostly, it seems that the defintion is based on one's condition as a child, and that condition can change dramatically over time as one ages. As adults, some intermedias transfuse and chelate at or close to the same rate as majors. Some never need to transfuse.
I would like to see what you have to say about how you were diagnosed as an intermedia, at what age, and if you have transfused, and if so, how often do you transfuse? Also, for intermedias who chelate, have any of you had to use an iron chelator like desferal, even though you have never transfused?
When you were diagnosed, what was the diagnosis based on? Do you know what factors or criteria were used to determine that you were intermedia?
I know it's a lot of questions, but if you can answer any or all of them, it would be a great help to those who are trying to determine what their own classification of thal is.
My daughter was diagnosed at age 13 mos with beta thal minor the old name for intermedia.....Now at 29 she is undergoing alot of transfusions she was treated the best way they knew how for the time her HB runs very low all the time 4.6 so they keep pumping her up and talking about a spleenectomy. They requested my ex husband and I be tested which threw us for a loop I don't understand I am not a B thal trait and her dad is not a B thal trait carrier how can this be? any help would be useful Doctor is requesting another test DNA stating the 11th cromasome is affected somewhere but can't find it. So he is wondering something he doesn't dare tread on. So if you have any ideas it would help thanks
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A proper diagnosis is required. A DNA analysis is the only sure way to determine what affects your daughter. The diagnosis of thal minor was never correct. Without any test results, I cannot comment much, other than to say if nothing is found on chromosome 11, HbH disease (alpha thalassemia) which affects chromosome 16 should be investigated. If both parents have been tested and beta carrier is ruled out in both, then alpha must be considered. Did you and your ex-husband both have the hemoglobin electrophoresis test?
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Is it possible to be Thal Intermedia and have a Hb between 11-12.5??
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Is it possible to be Thal Intermedia and have a Hb between 11-12.5??
Good question. I am an Intermedia and I do extremly well, but my Hb is hardly ever over 10. I take daily supplements and exercise 3-5 days a week. Also taking L-Arginine and L-Carnitine daily.
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It is not likely, unless there are other moderating factors, such as an alpha deletion, present.