Hi All
I am currently 18 weeks pregnant, and a Haemoglobin E carrier. My husband has the beta-thal trait, and we are not sure whether our baby is the 1 in 4 that will carry the disease (we are not planning to find out until birth).
We had DNA testing done to see what type of beta-thal gene my husband carried, and found out it was the severe beta-plus gene IVS 1-5 (G>C). Neither of us carry any alpha mutations.
I was wondering if anyone had any experience with children (or experience themselves) of the HbE-beta thal disorder (with the IVS 1-5 mutation). I know this can be a broad-spectrum disease, and may or may not mean transfusion dependency, but wanted to get an idea of what we might be facing.
Also, any advice would be much appreciated! We were told that presence of Xmn1 polymorphism might also provide better idea of clinical course, but that it would be investigated by looking at the baby's blood sample post-partum.
Appreciate any input,
Many thanks
Saima