Thalassemia Patients and Friends
Discussion Forums => Thalassemia Intermedia => Topic started by: leandra on October 24, 2006, 12:55:06 PM
-
Hi everyone,
My two grandchildren have just been diagnosed with Hemoglobin H disease. My daughter has A minor and her husband has B . The doctors say my son in law must be a carrier of A. the one grandchild has enlarged spleen and is taking folic acid he is 5yrs old. the other is 7mths but has feeding problems and he is on iron.This is all new to me and dont understand whats happened. Any advice would be appriciated.
leandra
-
Hello Leandra,
I don't know a lot about Haemoglobin H disease, but I can explain the genetic basis for it in a simple fashion. Haemoglobin is made up of three ingredients: alpha globin, beta globin, and heme (which contains iron). The alpha globin and beta globin are made from instructions contained in our genes. We inherit 4 copies of a gene that can make alpha globin, and two copies of a gene that can make beta globin. Different types of thalassaemia occur depending on whether we have problems in our alpha globin or beta globin genes. In the case of Haemoglobin H disease, it is because a problem has occured in the alpha globin genes. Three out of the four copies of the alpha globin gene aren't working properly. This means that we can't make enough haemoglobin and have anaemia as a result. Like a lot of people on this message board, you grand children will need medical care to lead a long and happy life! Perhaps someone else can comment on the medical care that might be needed?
Best wishes,
Sally.
-
Hi Leandra,
I am so sorry to hear that your grandchildren have this condition. I am a thal inter and am on transX and iron chelation. I found some info on hemaglobin H that maybe useful to you to understand what needs to be done. I am enclosing the link: http://www.emedicine.com/ped/topic955.htm (http://www.emedicine.com/ped/topic955.htm)
Some more info:
Hemoglobin H disease. These patients have lost three alpha globin genes. The result is a severe anemia, with small, misshapen red cells and red cell fragments. These patients typically have enlarged spleens. Bony abnormalities particularly involving the cheeks and forehead are often striking. The bone marrow works at an extraordinary pace in an attempt to compensate for the anemia. As a result, the marrow cavity within the bones is stuffed with red cell precursors. These cells gradually cause the bone to "mold" and flair out. Patients with hemoglobin H disease also develop large spleens. The spleen has blood forming cells, the same as the bone marrow. These cells become hyperactive and overexpand, just as those of the bone marrow. The result is a spleen that is often ten-times larger than normal. Patients with hemoglobin H disease often are small and appear malnourished, despite good food intake. This feature results from the tremendous amount of energy that goes into the production of new red cells at an extremely accelerated pace. The constant burning of energy by these patients mimics intense aerobic exercise; exercise that goes on for every minute of every day.
Hope this helps. Feel free to ask any questions.
Regards,
Namitha
-
Hello again Leandra,
You can access a fact sheet on alpha thalassaemia here: http://www.tsv.org.au/prodimages/microsoft%20word%20-%20alpha%20thal%20final%20english.pdf
If Haemoglobin H disease is treated from an early stage, I don't think the symptoms described in the second part of Namitha's post will occur - these are symptoms of severe anaemia and also occur in beta-thalassaemia major if this condition is not treated. You can find out more information here:
http://www.chime.ucl.ac.uk/APoGI/data/html/hb/couples/azxap.htm
As Namitha pointed out, there is also a great deal of information regarding symptoms, diagnosis, and treatment available on this site: http://www.emedicine.com/ped/topic955.htm
This article states that people with Haemoglobin H disease are generally able to live a "normal" live, but may need blood transfusion from time to time if their anaemia becomes severe. I hope your grandchildren are doing well and have found a suitable haemotologist to look after them. Where abouts are you located?
It might be useful for other members in your family to be aware of this condition too.
Best wishes,
Sally.
-
Hello Sally and Namitha
Thank you so much for your reply.
I have read so much about this condition its alot to take on board. Both my grandsons are strong and have always eaten healthy but I can see with the older one the change in his appearance. We live in Cyprus and there so many people here who suffer from Thalassemia. I am English and am married to a Cypriot who didnt know he had Alpha trait until my daughter was diagnosed with it in her teens. We found out her husband had Beta trait and the doctors said it wouldnt be a problem but for some reason it was. They think her husband has alpha also, I dont really understand.
Keep well and be happy.
Best wishes for you both Leandra
-
Hi Leandra, I am half Greek, with thal intermedia. I have what should be a minor form of beta thal (single gene mutation), but with possible alpha thal involvement. I need to get a DNA test for alpha thal to confirm this, I've only been checked for beta. The doctors think this combination is what makes my anemia more severe than the minor form.
I am 55, and didn't even get diagnosed with thal until I was in my 20's. They could never figure out what was wrong with me as a young child. At least people know more about thal now and can get it diagnosed and treated if necessary.
Do you know why they are giving your grandson iron? People with thalassemia need to avoid iron. The body thinks it needs more due to blood cells that are not made right, and stores it from food, causing iron to accumulate. It seems some people have thal AND are iron-deficient, but this needs to be confirmed with a serum ferritin blood test. Otherwise iron is not good. They mistakenly gave me iron pills during college, and I got real sick.
Do you go to a thalassemia center? Have your grandsons been diagnosed with trait or intermedia? Do you know what their hemoglobin levels are? Good luck, and keep asking questions. Jean
-
Hi Leandra,
There is the Thalassemia International Federation in Cyprus. Maybe you could contact them for info and support.
Here is the contact info:
Postal Address: T.I.F. P.O.Box 28807, Nicosia 2083, CYPRUS
Email: info@thalassaemia.org.cy
Telephone: + 357 22 319-129
I am enclosing a link to TIF, do check it out. Don't worry with proper treatment your grandchildren can lead a normal life.
Regards,
Namitha
http://www.thalassaemia.org.cy/ (http://www.thalassaemia.org.cy/)
-
Hello Jean,
Thank you for your reply.
My daughter was diagnosed in Cyprus because she kept getting ill but she was born in the UK and she had feeding problems and was small and was thin but nobody new what was wrong with her. Thinking back its obvious she was unwell, she always slept alot and still does. As far as I know she has Alpha minor, her husband has beta so the children shouldnt have this hemoglobin H but now they will re test him cos he must carry the Alpha trait. My oldest grandson hemoglobin is 8 and the baby 9. They were both on iron as they were very low, they have now changed the older one to folic acid but the baby is still on liquid iron for now. We are waiting to see the doctor in the Thalassemic clinic in Nicosia because the children are in the UK as the baby is having treatment for a mis shapen head and they only found out about this the day before they were going. Basically from what I understand from reading is the boys only have one alpha gene working but until we go to the clinic I wont know for sure.
Reading about it on the net is ok but talking like this is so much better as you speak and ask questions and everyone is trying help each other.
I have told the rest of my family about this as I know two of my step daughters are aneamic and are being treated with iron so they will check it with the doctor.
Thanks again, Leandra
-
Welcome to the site leandra
I hope you are ok. I know this satge of life you are living is confusing cause you are not sure of anything. I hope everything will turn out to be good.
i think you should start with DNA test for both boys to know exactly where you stand
Take care
Manal
-
Hi there Leandra! :)
I'm a new member to this forum and I have Hemoglobin H Disease myself.
I was diagnosed when I was around 12 months old because I was very pale in my toes and a little too mild mannered and the doctor found out I had anemia and then had my blood sent to a specialist and they found out that my anemia is, in fact, Hemoglobin H Disease, which is a form of alpha thalassemia.
I'm 24 now and my family and I have lived for most of my life knowing about this disease and working with it and working around it.
Please, if you need someone to talk to, let me know and I'll be more than glad to answer questions and share my experience living with this particular form of thalassemia.
I'm sorry your grandchildren have Hemoglobin H, but I do believe that they will be okay as long as they're properly and carefully cared for. :)
-
And may I link you to a very informative and pretty accurate website?
The Northern California Comprehensive Thalassemia Center has a lot of good information on both alpha and beta thalassemia. :)
Here's the link: Hemoglobin H Disease (http://www.thalassemia.com/alpha_thal_3.html)
And here's a quotation of the article on their site:
Hemoglobin H disease is characterized by one functional gene that codes for the production of alpha globins (--/-a). Hgb H disease should be considered in the case of a neonate in whom all of the red blood cells are very hypochromic. These neonates have a high percentage of hemoglobin Bart's on the their newborn screening results. In older children, this hemoglobinopathy is characterized by moderate anemia with a hemoglobin in the 8 to 10 gm/dL range, hypochromia, microcytosis, red cell fragmentation, and a fast migrating hemoglobin (Hgb H) on electrophoresis.
Hemoglobin H does not function as a normal hemoglobin and has a high oxygen affinity (holds onto oxygen longer making it unavaible for use by the body), so the measured hemoglobin in these children is misleading. Individuals who have Hgb H generally have a persistent stable state of anemia, which may be accentuated by increased hemolysis during viral infections and by exposure to oxidant medications, chemicals and foods such as sulfa drugs, benzene, and fava beans (similar to individuals who have G6PD deficiency). As the red cells mature they loose their ability to withstand oxidant stress and Hgb H precipitates, leading to hemolysis. Therapy for individuals who have Hgb H disease includes folate, avoidance of oxidant drugs and foods, genetic counseling education and frequent medical care. Uncommon occurrences in a child with Hgb H would be severe anemia, cholelithiasis, skin ulceration, and splenomegaly requiring splenectomy. Unlike individuals who have beta thalassemia, hemosiderosis is rare in Hgb H disease.
Children with Hemoglobin H-Constant Spring (--/acsa) have a more severe course than children who have Hgb H. They have a more severe anemia, with a steady state hemoglobin ranging between 7 and 8 gm/dl. They more frequently have splenomegaly and severe anemia with febrile illnesses and viral infections, often requiring transfusion. If anemia is chronically severe and the child has splenomegaly, a splenectomy may be performed. If splenectomy is anticipated, the complication of severe post-splenectomy thrombocytosis with hypercoagulability can occur, leading to thrombosis of the splenic vein or hepatic veins. This complication has also been reported as recurrent pulmonary emboli and clotting diathesis. At CHO, children who are scheduled to have surgery are treated pre-surgically with low molecular weight heparin, followed by low dose aspirin, continued indefinitely. <next>
-
Hello to everyone,
Thank you for all your replies. It really is helpful.
Andy suggested we get DNA test done and find out the mutation. This has now been done. Even though I have read so many things, the doctor says that the seriousness of Hemoglobin H depends on where you come from. Has anyone heard of this? Although we have the results of the DNA we dont really understand what it means. They said it wasnt minor nor major so dont know what it is. The results were Med 1 A-3.7 I think this is the mutation. I dont know if this will mean anything to anyone but if anyone does understand and can explain, I would be very grateful. The doctors have also said not to worry about food eg low iron diet and things like that because it doesnt change anything. My oldest grandchild has always eaten healthy but the baby is very difficult with feeding. He doesnt eat very much and is on alergy milk because he was vomiting all the time. this milk is better but he is just not keen on any food. I consider this a worry. Regardless of the doctors opinion on the food issue they will still be fed on the healthy option.
Take care all.
Leandra
-
Hi Zadkhi,
Thank you for giving me the opertunity to ask some questions. Can you give me any advice about anything that you think is relavant. Things that they shouldnt do or eat. The doctors say we should be more aware of infections and illness as this could make them ill. Any advice would be appriciated.
Thank you in advance
Leandra
-
Leandra,
Hemoglobin H disease (HbH) does vary greatly in severity depending on the deletions or mutations involved. HbH is compared to beta intermedia in symptoms and does cover a wide range of symptoms. It is a 3 gene deleted alpha thal. One or two deleted genes is usually not a problem but three gene deletion can cause serious problems and apparently there is some possibility that two gene deleted alpha and beta minor together can lead to intermedia. What the doctor means when he said it depends on where you are from is that in some areas certain mutations or deletions are prevalent and some cause more severe problems than others. For example, the Med 1 A-3.7 is common in Brazil. The presence of the gene can lead to small red blood cells and low hemoglobin in the cells, and is often mistaken as iron deficient anemia and iron is mistakenly given. I question giving iron supplements to the 7 month old child. Has iron deficiency been shown through serum ferritin test or is it assumed because of the low Hb and the appearance of the red blood cells. Iron supplements can be very rough on the stomach and could be a reason for the lack of appetite. It is also possible that the baby has an intermedia-like condition because of the existence of both alpha and beta genes. Was beta also checked? You mentioned earlier that the father carries the beta trait. I was looking at a very good presentation about thal intermedia at
http://www.charite.de/ch/medgen/eumedis/thalassemia04/molecular-clinical-aspects.html
and there is some question about the combination of alpha and beta and it is now suspected that 2 alpha genes and one beta gene can lead to a condition that falls into the intermedia classification. Obviously, more needs to be done to sort out the different deletions, mutations and combinations.
A low iron diet may eventually be required but until iron buildup is demonstrated there is no need for concern. A good healthy diet is necessary for all thals as there are many stresses on the body that can lead to deficiencies of essential nutrients, such as folic acid and Vitamin E. Supplementation of these vitamins are normally recommended.
-
Sorry it took me a while to respond; I was out over the weekend. :)
Now for some answers to some questions:
Andy is definitely right in his statements regarding the nature of Hemoglobin H disease. Exactly what type it is - what deletions and if it is a combination of alpha and beta or just alpha - will help determine what complexities will result from the HgH Disease.
Many HgH patients - myself included - have lived our entire lives with Hg levels between 8-10 (mine's 7.X) without being transfused and have adapted ourselves to live with the HgH peaceably with more or less minimal issues.
Other HgH patients have had a harder time - be it lower Hg levels or just the nature of HgH and anemia in itself - and have taken the path to transfusion therapy.
I'm actually caught in between, because despite me saying that I've managed fine for 24 years without transfusion therapy, I do believe that a lot of my issues that I've encountered the last 4 years or so in my life could maybe have been avoided if I had been on transfusion therapy, which would theoretically have given me more energy to take on the various challenges in life.
But that's also a what if.
The fact of the matter remains that:
I'm 24. I've had a 7.something Hg level all my life as far as I know and remember. I graduated high school on time. I attended university on-time and got accepted into a competitive university to boot. I managed with some difficulty to get through my classes and keep up with my university level peers. I've also struggled with issues that may or may not be related to my low hemoglobin count, like depression and catching illnesses at all the wrong times and with annoying frequency and not being able to literally catch up with my peers in physical activities or sometimes just in class due to exhaustion.
So here's a rundown of my story.
To reiterate, I got diagnosed when I was approximately 12 months old. The doctor didn't consider the possibility of thalassemia when I was first diagnosed and so I was misdiagnosed as having iron deficiency-related anemia.
It turned out that I didn't have iron-deficiency anemia because I didn't 'get better' (my paleness didn't go away) with iron supplements and my doctor sent my blood in for a more complete workup which showed my HgH Disease. Of course, I stopped iron supplements and went to folic acid supplements instead, which I do believe did help!
I do believe that my HgH is 3-gene deletional, though my hematologist is seriously questioning the possibility of having HgH Constant Spring, which is a variation of HgH. The reason for the questioning comes from the fact that my hemoglobin levels are on the 'lower' end (7.X) of what's expected in a typical healthy HgH Disease patient, which is 8-10. Constant Spring tends to have a lower Hg level that's in the 7s rather than 8-10.
I believe what the doctor means when he says that the severity of the HgH depends on where the patient comes from stems from the fact that certain variations of HgH tends to show itself in certain ethnic groups. It doesn't mean it does, but it does mean that there's a tendency for it. I'm Taiwanese and my parents came from Taiwan and I have 3-deletional gene HgH Disease or so I've been told. I'll be doing another blood workup to verify this later.
ON IRON SUPPLEMENTS:
It's hard to say whether or not iron supplements should be used and my advice is to ask the doctor to test for iron levels in the blood to make absolutely sure that there actually IS a deficiency of iron.
HgH, like the other thalassemias, has the problem with iron overload and I have two and a half times the 'normal' iron load and THAT is considered 'normal' for someone who has my type of thalassemia and hasn't been transfused. Obviously, you don't want to overload on iron supplements if you already have an iron overload.
If there IS an iron deficiency, iron will be okay to take because that means within your blodostream itself, there either isn't enough iron or the iron isn't easily used by your body, but I definitely recommend monitoring iron absorption. My mother taught me that you watch the color of the stools to see if the iron's been absorbed. Dark to even black stools indicate absorption and lighter to normal colors indicate non-absorption, which means the liver will possibly be hoarding away the iron, which isn't good.
Another thing too, is, if the iron deficiency is only a little bit, consider using natural methods of ingseting iron. Leafy greens like spinach and kale and a bit of red meat (if this is allowed in your diet) are all more easily absorbed than iron pills or even iron drops. :)
Since I never had a problem with iron deficiency (we had a lovely garden at my old house and we got lots of fresh veggies!), I avoided high-iron foods like fortified cereals and breads and breakfast items, and too much red meat and shellfish that are known to have a lot of iron.
ON DIETS:
Provided that iron deficiency is NOT an issue, a diet that avoids high levels of iron is much recommended. Also, avoid FAVA BEANS.
ON THINGS TO AVOID:
There used to be a great PDF handout I used to have, but can't find anymore, and it detailed a good list of things to avoid. If someone else has one, please do post! I know I have a copy -somewhere- on my computer, but can't find it at the moment.
Mostly, though, avoid fava beans, mothballs, and sulfa drugs and other foods, chemicals (like benzene), or drugs with OXIDANTS in them. Oxidants promote hemolysis (breaking apart of red blood cells) and that's something to avoid if at all possible.
When the child becomes an adult, it's prudent to avoid excessive alcoholic ingestion. I have extremely low alcohol tolerance because of my HgH and I have gotten alcohol poisoning from having only a 'little bit' of a drink and almost got sent to the ER.
The reason to avoid it is because alcohol has a tendency to thin the blood and where one might think it's good to thin it because of the iron, it actually works in reverse and makes one light headed and can actually cause a drop in Hg levels.
I believe this has something to do with accelerated oxidation of red blood cells?
ON ILLNESSES:
This is something definitely to talk about.
HgH patients oftentimes are more prone to illnesses and if they catch an illness, it will hit them a lot harder and for a lot longer. Careful medical attention and care is absolutely necessary.
Illnesses should not be allowed to prolong any longer than absolutely necessary and fevers especially are to be taken care of as soon as possible because of the complication of increased hemolysis (breaking apart of red blood cells). Fevers are particularly bad for this reason because it helps promote the breaking down of red blood cells.
If a fever goes on for too long, enough damage to the blood cells might be done to require a transfusion, especially if the patient has a fairly low Hg level to begin with.
I was actually quite sickly as a child and came down with sever upper respiratory infections frequently. My other was oftentimes at my bedside to make sure my fever wasn't getting worse and to make sure I was drinking enough water and keeping my fluids down and making sure I wasn't getting too anemic if my illness was bad enough.
Also, it was very important to make sure the illness had completely gone away, too, and to not overwork/overstress me during recovery time. IE: If the child has just gotten over a cold, do not let him or her out to play in the rain or get too cold because the child is more than likely more prone to relapse into illness again.
I've been hospitalized as a toddler before because of double pneumonia and its pesky fever that just didn't want to go away, but I never needed transfusions even though my Hg levels dropped to 6.
Nowadays, I still catch colds on and off and when I do, they still hit me harder and take longer for me to recover, but as long as I take care of myself and don't push myself during that time, I will make a sound recovery and that's that.
OTHER THOUGHTS:
Something I really appreciated my mother doing for me is giving me both as normal of a life as possible while still giving me specialized medical and personal attention when I needed it.
I had a hard time going through my schooling because I was frequently sick and I was physically not very strong and didn't have very good endurance and so I didn't do well with sports and was thus teased mercilessly by my peers.
But my parents pushed me to do what -I- could, comforted me when I couldn't do it, and kept encouraging me to exercise and not let my experiences in PE color my point of view on exercise in general.
I loved swimming as a young child and still do and I love going for walks and taking hikes at MY pace.
I couldn't and can't catch up with everyone wanting to run a mile or jog up a steep path, but I can walk my way there and get a good deal of exercise out of it.
My parents also encouraged me to listen to my body.
If I was tired, then I was tired. If I was hungry, then I was hungry.
I tried to keep as normal of eating and sleeping schedules as possible, but depending on how much activity I had done in the day, I might need a nap or an extra mini meal and that was okay. Sometimes, I was exhausted to the point of sleeping 10-12 hours after a particularly rough day and that was okay, too.
I'll add here that I wasn't transfused and so my Hg levels were pretty low and thus, I was probably more easily tired than other people with higher Hg levels.
My parents avoided taking me to the mall and other heavily populated places during the cold and flu season because I always seemed to get sick during those times.
My time outside in really cold or rainy weather was more limited than my sisters' times were and where I thought that to be unfair, it made sense.
Everything was 'normal' until I caught a bad cold, more or less, and I was treated 'normally' for the most part, though I believe my teachers didn't quite understand the nature of thalassemia at the time.
RANDOMNESS:
I'm 5'4" now, but as a child, I was short and small and stayed short and small for quite a while until I had my growth spurts. According to the doctor, I developed normally and fully, if a bit slower. I believe this was due to the superb care I received from my mother and my doctors as a child.
I had horrible leg pains when I was a child up until I was a teenager. I think they were growing pains because they ached only at night and mostly went away during the day. Some doctors have told me that such pains are not unusual for HgH patients.
I've been transfused twice, both times within the last 2 years in an attempt to see if transfusion therapy would boost my Hg levels and my energy levels. Because of my low Hg, I would need a more constant transfusion therapy to really see if transfusing makes a difference and because of issues of constant fatigue, illnesses, and chronic depression, I'm considering transfusion therapy to see if elevating my Hg levels would help combat those issues.
During my first visit to the hematologist, my hematologist was delighted to see that aside from my HgH disease, everything else he measured was okay - thyroid, various vitamins and minerals levels, etc. Credit goes to my parents who were mindful in how they cared for me. :)
So that's what I can think of off the top of my head Leandra and I hope it helps some.
If you or anyone else have any other questions, please feel free to ask away!
-
Heeeeey! I found the document! :D
http://www.thalassemia.com/Hb_H_disease.pdf
^ That's a pretty handy 'guide' of sorts to HgH Disease and it's complete with a list of things to avoid and signs of severe anemia. :)
-
Hi Zadkhi,
Thank you very much for your reply. It helped alot. I printed it and gave it to my daughter and she read and reread. Early days for her to take it all in but she felt better after reading your story. All sorts of things go through your mind and to have some information from someone with the same conditions helps,
The baby who is 8mths now just had another blood test due to his not eating well and looking unwell. His Hb has dropped slightly to 8.6 but within the normal range, hes lost weight and has been put on vitamins. No iron anymore but also no folic acid either. They have given him small dose of anti biotics as precaution in case hes not well. Im not really happy about his health as he just doesnt want to eat. I have just had the two of them for the weekend and the baby is not interested in eating, he just doesnt seem interested. I have tried every hour just to get him to take a spoonful or some milk which he does but Im sure this should be investigated further.
The older boy is going down with a cold at the moment but we are lucky in the fact that he eats well and eats healthy and is funny,strong and has a lovely personality.
Both my daughter and myself were very touched at the constant mention of your Mother and her love and care for you through the years. This is a very important part of any person being ill, the love and support of those around you give.
I may come back to you with other questions from time to time. Thank you once again. Please keep well and be happy.
Leandra
-
Hi Andy,
Thank you for your reply,
I am reading constantly and trying hard to understand their condition. When they told us about the mutation we asked for more test done on my daughter and her husband but they say it doesnt matter because they have what they have so its irrelavant about the Alpha and Beta thing. My daughter is still going through the process of acceptance and she is finding it hard to come to terms with this. I feel that we should know for sure what happened. The hemotologist was very nice and tried to explain but for me I want to know if my daughter has 2 alpha missing and my son in law has the trait so my grandchildren have 3 alphas missing. so how does it work. My daughter Hb is always around 10 and is tired and looks pale from time to time. My son inlaw looks fine and his Hb is around 13 and he is beta. Do you think we should find out exactly what the problem was. If you say there could be a problem with Alpha and Beta then we should be able to find out.
I am concerned because my oldest grandchild who is five we have only just found out and apart from him looking unwell for a short time he seems fine but the baby was checked because he looks unwell and not growing well. I know that 2 people with same condition can have different symtoms. How can we know what we are dealing with unless they do the proper tests.
Zadkhi has the 3 gene deletion as do my grandsons, so why is important to know exactly what was passed down. Will it help to treat the conditon. The doctors here say they will only need to have a blood test every six months and take folic acid. The only thing we need to be careful of is infections and get them checked early if they are ill. Nothing else can be done. I have read what Zadkhi has said and understand more. The babies Hb has just dropped slightly but his iron is fine but because hes in the range of HG H then thats ok, so the doctors say. Im sorry but Im the sort of person that needs to know everything and make sure we are doing all we can to keep them well but I suppose its so common here its normal. Maybe its early days. One thing for sure if they get ill I will be questioning myself as to why I didnt push more for information. Can you understand what I mean.
Im worried and also worried for my daughter who as of yet not really understands that there are lots of things we should be careful of. Im not saying the doctors are not doing their job but there is alot of Thalassemia here and they treat it as normal but to me its not. Until now I didnt realise how many people it effects and in Cyprus nobody talks about it. They call it Stigma here, when i looked it up in the dictionary I was quite upset that is means " A mark of shame" Wheres the shame in being ill.
Sorry bit angry, worried and confused.
-
Hi Leandra,
Do you know if the hemoglobin levels of the two boys have been dropping? I am concerned about the younger being so uninterested in eating and whether his development is not what it should be.
HbH is compared to beta thal intermedia because its symptoms can be so similar, including covering a wide range of conditions. Just as with beta intermedia, patients may manage with a low Hb level or may become transfusion dependent. I think there may be significance to whether or not the children also carry the beta thal gene. In the past it was assumed that beta and alpha together would not cause problems, but more recently there has been some suspicion that the combination can lead to symptoms of intermedia. Even though the two sets of genes have nothing to do with each other, it may be a cumulative problem where the the effects of the two types of thal can lead to a condition with symptoms of intermedia. We hear so much about beta thal minor causing significant problems, so it does make some sense that adding that to HbH would make the situation worse. I think they should both be tested to see if beta thal is also present. Current progress in understanding these genes and the different combinations is being made at a rapid pace, and what may not seem to be important based on earlier assumptions about thal may prove to have great importance in understanding and treating thal. The doctors don't have to act like yesterday's knowledge is ultimate and that no progress in understanding can be made. It is being made and I feel that any doctor involved in any disorder or disease treatment should always be willing to keep up on all the latest developments in their fields. Two years ago I was hearing about there being over 100 known thal mutations. Now there are over 200 known and more being discovered all the time. I recently ran across an older article that talked about only 30 known mutations. This is how fast change is happening in understanding. Doctors have to be willing to alter their thinking as they see cases that don't fit the mold. There has to be an explanation for the younger child's state of health and it needs to be found. His Hb levels should be regularly monitored for any signs that they are suddenly dropping. You are right in demanding to know everything you can about the boys condition. What may not have seemed relevant in the past may now have some bearing on understanding and treating them.
I am very dismayed to hear that in Cyprus, where the thal gene is found in over 15% of the population, has such backwards attitudes towards thals. I've encountered this same thing so many times, and it is a similar situation in Maldives where 18% carry the thal gene, yet thals are not very well accepted by their society. The real shame is in the attitudes of those who feel that thal is a stigma. Ongoing public education programs are essential to teach the public that thal is not a stigma and thals are no different from anyone else and and should be given the same opportunities in life as everyone else.
-
I just wanted to give a head's up and tell people that I'm not ignoring or abandoning this thread or forum or anything.
I deal with cyclical depression from bipolar disorder and I've been struggling with that a bit lately and I would rather make a post when I'm not as affected by my emotions.
:)
-
Hi Zadkhi,
Nice to read from you and I do undestand first hand what you are talking about because I have the same experiences.
I also struggle with depression and it can be tiring ,
Thank-you for that article on Folic acid .
Getting referrences from this site I took it upon myself to commenced on folic acid.
you are not alone we are always here for you .good luck .
Kathy
-
Hello Andy,
Sorry havent been on for a while many things going on. Just updating you on whats happening. Thankfully baby jason is eating and growing well, hes still small for his age but at the moment he is fine his HB is still around 8 but hasnt fallen. Chris the 5yr old has been poorly, flu and normal childhood infections but his HB stays around 8 also which is good. The older child get tired alot more than before but I feel hes beginning to understand that he has to rest even though he doesnt always want to but in the end he gives in. the baby is still having treatment for his plagiocephaly and is doing well, tough going back to fro to the UK but its worth it.
I wonder if you can clarify something for me as Im a bit confused again. I did say before in Cyprus people dont like to talk a bout thalassemia and its been difficult but my daughter persuaded her in laws to have a blood test to see what type of thalassemia they have as the doctors are assuming my son in law is a silent carrier of A because of the children. The results came back that her father in law has no trait, mother in law is Beta but no sign of Alpha, the only problem is my son in laws sister is Alpha. Weve been told this is not possible and its been suggested that there is a ? concerning parents. Could is be possible that the test has not been done properly, if the doctors testing didnt know that there was a possibility of a silent A trait, would they have found it or do they need to look for it? This has also been suggested. Something is not right here and we need to know exactley what the possibilities are as my daughter is thinking of having another child and we need to know the possiblities of what kind of thalassemia this child could have and is it possible for this child to be Thalassemia Major. My daughters motherinlaws nephews are thalassemia major B and have blood transfustions, this is something we found out recentley. Can you give me any answers from what Ive just said. The doctors here say wait for the 4mth test and if its a big problem you terminate and try again. What kind of solution is that. I would appriciate any feedback.
Take care all.
Leandra
-
Silent carrier alpha thalassemia trait is not easily diagnosed and could explain why the doctors have said that neither of your son-in-law's parents carry the alpha trait even though their daughter carries it. Obviously if the daughter carries it, one of the parents also must carry it.
From http://www.thalassemia.com/alpha_thal.html
The Silent Carrier status is characterized by three functional genes that code for the production of alpha globins (-a/aa). Outside the newborn period, it is not possible to make this diagnosis by conventional methods. There is overlap between the red blood cell indices of these individuals and normals, although the MCV may be slightly lower. The silent carrier will experience no health problems in his/her lifetime. This carrier state is diagnosed by deduction when a 'normal' individual has a child with Hgb H disease or with microcytic anemia consistent with alpha thalassemia trait.
From http://sickle.bwh.harvard.edu/thalover.html
The loss of one gene diminishes the production of the alpha protein only slightly. This condition is so close to normal that it can be detected only by specialized laboratory techniques that, until recently, were confined to research laboratories. A person with this condition is called a "silent carrier" because of the difficulty in detection.
The combination of alpha and beta thal sometimes leads to an intermedia-like condition but cannot cause thal major. If there is only one alpha gene involved, it is unlikely to have much impact on the child and the child will most likely exhibit minor characteristics if he or she carries the beta thal gene. As long as only one parent carries the beta gene there is no danger of a major in future births.