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Author Topic: Study Finds Thal Minors do Have Symptoms  (Read 229159 times)
Slade
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« Reply #75 on: September 14, 2011, 05:32:56 AM »

Thanks Andy! I read about the possible combinations of Lepore with other traits which could lead to the major state.
My wife was tested (CBC, Hb electrophoresis) before we had children and results were negative for hemoglobinopathy. However my second child (will turn 12 months next week) has the same yellowish pallor and when we did the first bloodworks we found that he has lower Hb (~9 g/dL), lower MCV and MCH and other morph findings like hypochromia, anisomicrocytosis, dacryocytosis, ovalocytes and target cells. His iron is well within the reference limits.
Hopefully the baby looks and feels quite well and the hematologist said it's to early to do Hb electrophoresis. He said it should be done after he turns 2. I really hope he has nothing but Lepore trait as I do. I'll keep my fingers crossed...

Andy, I assume it matters how much of the total Hb is "bad" in various Hbpathies - as in my case it's around 8-9%. Hb A2 is 4,5 and  F is 2 or 2,5% (according to 2 methods). The bigger the % the worse the sympthoms? My total bilirubin levels are very high (70-80 μmol/L) which speaks of chronic hemolysis and I guess many of my sympthoms are related to it.

Edit: I made corrections in my lab results because I had them wrong the first time.

Regards,
Mart
« Last Edit: September 16, 2011, 01:34:39 AM by Slade » Logged

Hb Lepore variant
theresainadelaide
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« Reply #76 on: September 19, 2011, 02:16:54 AM »

Thankyou so much for this thread
Like Janee, I am in Australia. I have Thal Minor and both of my parents have Thal Minor. My brother has Thal Minor and so does my son and my brother's 2 daughters. My family has been telling doctors for years that Thal Minor has heaps of symptoms but doctors refuse to listen. I have a list of symptoms a mile long and the doctors can't (or won't) find the cause. I have been telling them the cause is in my blood but they think I am nuts. I am overweight, my mum is overweight and no amount of dieting or exercising shifts the weight. My doctor has recently told me that I have Chronic Fatigue Syndrome and she admitted that my Thal Minor may have something to do with it. Er excuse me: I think the Thal Minor is the cause of it entirely. I suffer from exessive sweating, chronic fatigue (I can sometimes sleep for up 3 days straight), I get brain fog, skin rashes, diziness, severe migranes, fluid in my ears, ringing in ears, severe thirst, the hot weather almost kills me. I suffer from sweats, chills, my skin burns and then my hands and feet freeze at the same time that my face and head is burning and I suffer from depression. These are just a few things I suffer from. My entire family suffer from these symptoms and the one thing we all have in common is Thal Minor. When are doctors going to listen to the people who live with this? I don't know of any doctor that actually Thal Minor so who are they to tell us that it is asymtomatic? I am on a care plan at present for the CFS. My doctor told me to take Mega B, vitamin D, fish oil, multivitamins, I take antidepressents, I have gastro eosphogeal reflux disease so I take meds for that. I take meds for the fluid in my ears and the nausea and pain killers for the migranes. I take so much medication that it is sending us broke and I am sure I rattle when I walk.
It sounds like a lot of you can relate to this.
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Theresa
Andy Battaglia
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« Reply #77 on: September 19, 2011, 07:09:21 PM »

theresainadelaide,
Have you ever had your vitamin D level checked? I know you said you are taking D but many supplements contain low doses which are useless for deficiency. Deficiency of D is very common and since it is necessary for so many other nutrients to be absorbed, it can cause many problems when low, including depression. Also, do you have any blood work results? The results of a CBC (complete blood count) would be useful.

Slade,
Lepore may not show on electrophoresis. If it does, then you know. If it doesn't, you may at some point want to have a DNA analysis to confirm he isn't a carrier. We have a group member whose daughter was born beta thal Lepore even though he was cleared through 3 electrophoresis tests. DNA testing after the child's diagnosis confirmed he carries Lepore. Because of the possible silent nature of Lepore, it needs to be known once your child is old enough to have children of his own. Understanding that a partner should not be a thal carrier is essential in avoiding the surprise of a thal major child. And yes, the lower the Hb and the amount of unstable hemoglobin variants play a role in the hemolysis and the amount of symptoms. The HbF won't cause the problems. The percent is higher as the fetal hemoglobin gene tries to compensate for low Hb with HbF but it is not sufficient and HbF also holds oxygen more than normal HB, but this means it also doesn't give it up as easily in cells where it's needed. Your low Hb and the inefficient erythropoiesis which creates some bad red blood cells along with the good, are the main causes of problems like excess bilirubin and fatigue.

A problem patients have with doctors is that most minors won't have many if any symptoms. But many do have problems, and more often this is related to a lower than normal Hb level. I think it will be a long time before the medical profession accept that many thal carriers have thal related issues. In the end, there isn't much they can do anyway. Maybe at some point they will recognize the special importance of certain nutrients and antioxidants for thal carriers and will actually give their some advice instead of telling patients it's all in their heads. Read the hundreds and hundreds of reports from minors I have read and you will have no doubt that it's not in their heads. 
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All we are saying is give thals a chance.
CatherineM
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« Reply #78 on: September 19, 2011, 10:05:58 PM »

Hi Andy

What levels are consider mild or severe in the terms of anemia?

It would make sense to me Thal Minors with more severe anemia would have more symptoms.  Is this the case?

Surely doctors  should consider the standard amenia symptoms as being caused by being carrier, as this is direct cause of the amenia (when other causes of anemia have been rule out).

Hope this makes sense.

Catherine
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theresainadelaide
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« Reply #79 on: September 20, 2011, 12:59:17 AM »

Hi Andy
I did have a vitamin D deficiency but that was treated some time ago as part of my care plan. I also had all my blood levels checked (I have a complete blood work statement carried out) once again as part of my care plan. Thanks for your reply. I do realise that the doctors can't do much to help Thal Minors but it would be great if they acknowledged that our symptoms are real.
Thanks again for your reply
Cheers
Theresa
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Theresa
PixieDust
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« Reply #80 on: October 22, 2011, 08:25:52 AM »

Something I ran across recently. This study was done in 1993. The findings are clear and are basically the same as what common sense will tell you. The severity of the mutation (genotype) has much to do with the the physical manifestation (phenotype) in thal minor. The more severe mutations, such as beta zero, can cause more problems in minor, just as they do in major. This is part of the explanation of why some thal minors do so much better than others. There are other factors, such as co-existence of alpha thal, which can moderate these symptoms. A person with beta zero trait who also has alpha trait, will typically have fewer symptoms than a beta zero who does not carry alpha trait. Those with the milder thal mutations will be likely to have a higher hemoglobin level and fewer, if any, symptoms.

http://sciencestage.com/d/792564/heterozygous-beta-thalassemia-relationship-between-the-hematological-phenotype-and-the-type-of-beta-thalassemia-mutation-.html

This is common sense that your phenotype would be related to your genotype, but most doctors on earth are not aware of this, which means, that you, the patient, have to try to inform the doctors.

Dear Andy,

I'm afraid how to find out these information.. I hope these are not found on blood tests ? Any specific test there for this?
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Andy Battaglia
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« Reply #81 on: October 22, 2011, 03:40:52 PM »

The only way to know the mutation is through a DNA analysis. If your insurance covers it, I would suggest getting the test.
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jotembe
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Hello everyone..


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« Reply #82 on: February 24, 2012, 04:36:30 AM »


Many thanks for posting this information, Andy!

As Chairman of "Thalassämiehilfe ohne Grenzen e. V." (i.e. Thalassaemian Relief without Frontiers) in Germany I am struggeling every week again with doctors, who denie that Thal Minor could reallly show symptoms of attendant diseases. This study confirms the reports people with the ß-thal trait.

Kind regards

Juergen M. Beith

j.beith@thogde(.)org
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foreverone87
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« Reply #83 on: March 22, 2012, 10:07:46 AM »

Hi all,

I'm new to this forum. I became interested in thalassemia because I am recently diagnosed with probably alpha thalassemia. I found it very interesting to understand on the condition. I only thought that blood could be sickled-shaped because of some problems, didn't know it was genetic. There are traces of it since my birth (jaundice, weakness and being asthmetic during 6-12months). Then came along more of anaemic. I have weakness and fatigue but overcame it with more exercise and outdoor activities. The sun helped in the sense that during the outdoor activities i became more healthy :D. I was enlisted in the navy (Compulsory national service in Singapore), and had many instances of weakness and fainting spells. But shrug it off as overexertion, until I had a more comprehensive blood test.

I would like to enquire more though on whether i could be carriers of both alpha and beta thalassemia because the test seems to give contradictory results. I had done 2 test, shall show you as follows

Haemoglobin Electrophoresis
HbA2                   2.5 (healthy reference range of 2.1 to 3.3
Haemoglobin F       0.3% (reference of <1.4)
Presence of HBH inclusion Bodies (less than 1%)
HbA present (Possible carrier of Alpha Thalassemia)

General Blood Test (of concern to Thalassemia)
Bilirubin lvl > 25 umol/L (reference of 3-24)
Red Cell Count > 6.8 (reference of 4.5-6.5)
Haemoglobin is normal range 14.9 (reference of 13.5-18)
Haemotocrit (PVC) 0.47 (reference range of 0.4-5.4)
MCV 69 FL (reference 78-98)
MCH 22 pg (reference 27-32)
MCHC 32 g/dL (reference 31-36)
RDW 16.7% (reference 11.0-15.5%)
Peripheral blood film > Dyserythropoietic changes present
suggestive iron deficiency and/or thalassemia trait
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Andy Battaglia
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« Reply #84 on: March 22, 2012, 10:09:36 PM »

Your results are all indicative of alpha thal trait. The presence of HBH inclusion bodies helps to confirm this. The percentages of HbA2 and HbF are both consistent with alpha trait. If beta trait was also present, the HbA2 would be expected to be higher, while it is in the normal range for alpha carriers.  The HbF would be expected to be higher in beta minor.  All of your blood indices also suggest thal trait, but those alone don't necessarily discern between alpha and beta, but the electrophoresis results confirm alpha. There is nothing that suggests beta minor. If you have a specific question about the results and what it means, I should be able to answer it.
The slightly high bilirubin is found in both alpha and beta thal and is the cause of the jaundice. It is a byproduct of hemolysis, the early break down of red blood cells. This is normal in thalassemia, as some defectives red cells are produced and break down more quickly, causing higher activity in the spleen, sometimes also with an enlarged spleen, so there is a higher turnover of RBCs, which also is reflected in the red cell count being high, as the bone marrow reacts by producing more RBCs than is normal. Your hemoglobin count is normal, as it often is with alpha carriers. Although most medical texts will say that this doesn't happen in alpha minor, we have heard from some alpha thal minors who have suffered from sudden attacks of hemolysis, as is the case with HbH disease, which is a more severe form of alpha. If you have had periods when you believe your hemoglobin has suddenly dropped for up to two weeks, it may be a result of exposure to certain foods like broad beans, specifically fava beans, sulfa drugs or chemical fumes, like moth balls. We have a more complete list at http://www.thalassemiapatientsandfriends.com/index.php/topic,3410.0.html

Getting sunshine is very important, as vitamin D deficiency is prevalent in today's world. If there are periods during the year when you can't get sun, you should think about taking a vitamin D supplement during those months. I would also suggest folic acid. It is the one universal recommendation for alpha thals because it does help to build red blood cells, and since thals have a higher rate of red cell production than normal, they also need a higher dose of folic acid. 400-1000 mcg daily.
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foreverone87
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« Reply #85 on: March 28, 2012, 07:45:13 AM »

Hi Andy,

The reason why i brought this up was I thought RDW was supposed to be in the normal range for alpha thal. Maybe i should go for a iron deficiency test in case to confirm whether my HbA is actually in the normal range because of iron deficiency or not. Thanks a lot for the clarification :D
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Andy Battaglia
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« Reply #86 on: March 28, 2012, 10:26:02 PM »

It's quite common for the RDW to be elevated in alpha thal trait.
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Andy

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texas_thal
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« Reply #87 on: June 18, 2012, 02:08:09 PM »

Hi Andy,

Would exposure to chemical fumes, sulfa drugs and fava beans have an effect for beta thal trait too, or is that seen mostly in alpha thal trait carriers ?

Thanks.
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Andy Battaglia
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« Reply #88 on: June 18, 2012, 02:11:25 PM »

Sulfa drugs in particular should be avoided by beta thals. I only know of anecdotal evidence about fumes causing hemolysis in beta thal.
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Andy

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texas_thal
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« Reply #89 on: June 19, 2012, 04:32:18 PM »

Hi Andy,

A lot of the antibiotics are sulfa drugs.

Do doctors prescribe sulfa drugs for infants ? If so, what would be substitute antibiotic for thal minor infants ?

Thanks.
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