Pregnancy and Confusions

Hi,

I have beta thalassemia intermedia with Hb E. I am 8 weeks pregnant. Though my husband had normal HPLC at the time of our marriage, now doctors suggest us to go for thalasemmia beta globin gene sequencing.

Please let me know if this test was really required? We plan to go for CVS test (for fetus) anyways. Is it a painfull test anf hope it will not harm my baby?

Any added precautions that I need to take during pregnancy? My transfusion has gone up massively in last two months (took 4 units)? Will the blood consumption come down as pregnancy proceeds?

Very anxious. Andy and others.. pls help!

Testing both parents is a precaution so they can give you an accurate assessment from the CVS. I think it's a good idea because occasionally there are variants such as Hb Lepore which are not caught without a DNA test. They are not common, but it is important to test for them. The founder of this group was a Hb Lepore beta thal and had the status of thal major, so it is important to know if this could be present in the fetus because it can create a thal major if present. This allows the parents to make a fully informed decision about the pregnancy.

Dear Andy,

My husband's beta globin gene sequencing report has came very normal, doctors also tallied it with his HPLC. They told us their is no need of CVS as child will be only a carrier. They say that in our case the results are known and test will be less beneficial. Genetics HOD told us that we should consider risk of 1% miscarriage rather than the known results on CVS. What do you suggest?

CVS is invasive, with a small chance of miscarriage, so since your husband's test came back normal, CVS would not be advised, unless there was a family history of thalassemia carriers.