Thalassemia: Family plans
Doctor Answers (1) on Thalassemia: Family plans
Thank you for your query regarding defects of hemoglobin synthesis.
Being a HbE heterozygous, you have a clinically silent qualitative defect of hemoglobin formation. You do not require treatment till symptoms.
Your wife has a quantitative defect of hemoglobin formation (B thalassemia trait) and has severe anemia requiring optimisation prior to pregnancy.
Both defects are due to mutations on different genetic loci of hemoglobin synthesis and it is very rare for such compound hemoglobinopathies to be seen in a single individual, however they manifest as individuals having sickle cell disease.
Your offspring has
25 percent chance of having HbE /B +
25 percent chance of being HbE / normal Hb
25 percent chance of having Normal Hb/ B+: Sickle cell carrier
25 percent chance of having normal Hb.
I would suggest a visit to a clinical hematologist to treat your wife's anemia, start folic acid supplements and discuss regarding the chances of offspring born with hemoglobinopathies with a fetal medicine Specialist.
As a Gynaecologist, the options would be.
1. IVF and pre-implantation genetic diagnosis of embryo and selective transfer.
2. Chorionic villus sampling in first trimester to determine fetal disease.
3. Prenatal consult with neonatologist to prepare for limitations of morbidity associated with compound hemoglobinopathy.
Do let me know if there are anyother queries.