Diagnosing Thal Minor

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Diagnosing Thal Minor
« on: July 21, 2011, 06:23:33 PM »
Hello,

I recently went through my second miscarriage (both of them around 7 1/2 weeks) and am desperately looking for answers as to why this happened.  I know 2 miscarriages aren't uncommon, but I can't help wonder whether I could've done something to prevent them.  

I was diagnosed with Thal Minor as an infant, but have never really known much or even thought about it.  Given the miscarriages, I'm now interested in getting tested again to get a better understanding and to find out if I should do anything different during the next pregnancy.  I've always had a low blood pressure, whether pregnant or not, usually around 90/50.  I had a CBC done right before my D&C last week and here are the numbers:

WBC 6.37, RBC 5.17, HgB 11.6, Hct 37.4, MCV 72.3, MCH 22.4, MCHC 31, RDW 14

My OB and general practitioner don't seem very knowledgeable about Thalassemia, so I feel like I need to take my own initiative to get this checked out.

So my questions are:
1) Do you see anything in my numbers that suggest Thal Minor?
2) Do I need to go to a hematologist to get this diagnosed?  Or can I just ask my OB or general practitioner to run the tests for me?
3) What tests should I ask for?
4) I was taking a prenatal vitamin that contained 30mg iron along with a ton of other stuff.  Should I have not been taking this?  I know I need to take certain tests to find out if I need to take iron or not, but what other vitamins do I need to watch out for?
5) Any other suggestions on supplements I should take before and during pregnancy?

Thanks in advance!
Janelle
« Last Edit: July 21, 2011, 06:40:04 PM by jellebelle »

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Offline Andy Battaglia

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Re: Diagnosing Thal Minor
« Reply #1 on: July 22, 2011, 01:28:21 AM »
Hi Janelle,

Yes, the red cell numbers all indicate the possibility of beta thal minor. Your regular doctor can have the test run, although he may not fully understand the results. The test that is used once thal trait is suspected is the hemoglobin electrophoresis test. This will give results for HbA, HbA2 and HbF. An HbF of more than 1.5% and an HbA2 in the range of 5% will confirm thal trait. When this test is not conclusive and there is enough evidence to suggest a high possibility of thal trait, a DNA analysis can be done. This is definitive and will even tell exactly which variation of the beta gene is present.

During pregnancy, folic acid is quite important for all women, but for thals it's even more important. 1-5 mg daily is recommended. Folic acid supplementation should begin for all women before they try to get pregnant, as it can greatly reduce the risk of birth defects. Iron should be taken if iron tests show deficiency but not just based on Hb level, as this is typically lower in thal minors, especially during pregnancy. Although you'd have a problem convincing doctors of this, iron has never been shown to be beneficial to pregnant women. Even though the Hb may rise in some women from taking iron, this has never shown any benefit to mother or child. If an iron panel shows you are deficient, then iron may be advised. I think one of the most important things a thal minor can do while pregnant is to take natural vitamin E. I suggest 400-800 IU daily of natural E, as it is a mild blood thinner. I have posted extensively about why and don't want to repeat all this, but if you go through the posts listed in the thread at http://www.thalassemiapatientsandfriends.com/index.php/topic,3041.0.html   you will see much discussion about miscarriage in thal minors. I do not believe it is coincidence, and in fact the causes of this are well established in thal major and intermedia and from the hundreds of reports we have heard here, I can only believe the same circumstances lead to miscarriage in minors. Search for mention on this site for the hypercoagulable state in thalassemia. I believe this to be the cause for the frequent miscarriages that minors have reported here. If a doctor understands this potential for clotting he may watch for it during pregnancy and prescribe a daily baby aspirin to thin the blood.
Andy

All we are saying is give thals a chance.

Re: Diagnosing Thal Minor
« Reply #2 on: July 22, 2011, 05:44:56 PM »
Thanks so much for your response, Andy!  Since I know that I was diagnosed with Thal Minor before, how important is it to know the specific variation of the beta gene?  Will it change my course of action while pregnant?  If not, then it sounds like an iron panel to check for deficiency, monitoring clotting, and the vitamins you recommended are the changes I should make for my next pregnancy.  Does that sound right?

Thanks again,
Janelle

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Offline Andy Battaglia

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Re: Diagnosing Thal Minor
« Reply #3 on: July 22, 2011, 06:10:13 PM »
As long as there is no doubt about the diagnosis, there is no reason to do an electrophoresis or DNA analysis.
Andy

All we are saying is give thals a chance.

Re: Diagnosing Thal Minor
« Reply #4 on: July 22, 2011, 06:48:27 PM »
Sounds good.  Thanks again  :biggrin

 

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