Thalassemia Patients and Friends
Discussion Forums => Thalassemia Intermedia => Topic started by: sn196 on June 08, 2006, 01:06:48 PM
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Hi i am in a rite state at the moment!
I was diagnosed with Hb H disease from birth.
Me and my partner have been trying for a baby and she is now 3 months pregnant!!!
We went for our first scan yesterday and found out that they needed to do urgent bloodtests to see if my partner has any sign of Thalassemia in her blood. As i have not been educated on Thalassemia i did not know the consequeces of marrying someone with a trait. We were told that if we both have it there will be a very high chance of our baby being 100% Thalassemic!!
They have sent the tests and today got back to us saying that her blood count is fine but they are still awaiting the Thalassemia results??
If her blood count is ok should we take that as good news??
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Hello and welcome to the site.
There are quite a few members like you who come here with their questions and get answers. It is very helpful for us when we step in this unknown territory.
It is very important to get tested for Thalassemia if one of the partners have Trait.
Good thing you guys got to know this before the baby arrived. There are thousands of kids born with Thalassemia and do NOT know about parents being Thalassemia(Carriers) until the baby is diagonised with Thalassemia(Major).
If both the parents are Thalassemia(Trait) also known as Thalassemia(Minor) or Thalassemia(Carrier), there are 25% chance of having a child with Thalassemia(Major). The attachment below may help you to understand it more.
Your case seems to be Alpha Thalassemia.
Where are you located. It seems you are in good hands but be careful with results they give you. Thalassemia is NOT a well known term in USA and it is important they diagonise the right issue. There are quite a few Thalassemia center's now so someone can guide you to the proper center once you tell us, which area you live in.
-Narendra
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Hb H disease is three gene deletion in the alpha hemoglobin genes. There are four alpha genes and when three are deleted, the symptoms can vary from mild to moderate anemia. Folic acid is always recommended.
With alpha thalassemia there is a danger if both parents are carriers. If both parents carry at least two of the genes (you carry three), then there is a danger of all four genes being alpha thal. This is a severe condition known as Alpha Thalassemia Major or hydrops fetalis. The child is usually stillborn. Recent preemptive treatment using prenatal transfusions is the first hope for survival in these cases.
Your wife is being tested because of this possibility. If she is a carrier there is a chance of all four genes in the fetus being alpha thal. If she has one or no alpha genes there is NO chance of having a major. The baby will receive one or two alpha genes from you and the other two genes come from the mom. The odds are not as high as you have been told of having a child with four alpha thal genes, but if your wife is a carrier there is that possibility. If she has never suffered from anemia, it is unlikely that she carries two alpha genes. Testing will tell, and the concern is most likely caused by the knowledge that you are HbH yourself.
You can read more about alpha thalassemia at http://www.thalassemia.com/alpha_thal.html
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Id like to thank you guys for your replies we are just keeping our fingers crossed!!!
Im from the UK and we have a specialist hospital nearby, which is where the blood samples have been sent.