Dr. Goswami Parth Rajendragiri
Pathology
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Patient's Query
Hi doctor,
My wife and I are both 29 years old. I have been diagnosed with hemoglobin E disease. My hemoglobin A is 68.7 g/dL, hemoglobin F is 9 g/dL, and hemoglobin E and A2 are 26 g/dL. And my wife has been diagnosed with a hemoglobin E trait. Her hemoglobin A is 9.1 g/dL and hemoglobin E and A2 are 77.1 g/dL. We are planning for a baby. What is the possibility of our baby acquiring thalassemia major? What are the other complications during or after pregnancy? I have always had mild anemia, my hemoglobin always ranges from 9.5 to 11 g/dL.
Hi,
Welcome to icliniq.com.
I have gone through your attached reports (attachment removed to protect patient identity) and history.
1. Hemoglobin E disease or trait is an autosomal recessive condition. You are hemoglobin E disease patient, which means you are homozygous, and your wife has hemoglobin E trait, so she is heterozygous.
2. In such conditions, there is a 50 % chance of the child having hemoglobin E disease and 50 % chance of having hemoglobin E trait. So, the chances are 50 % for both disease and trait.
3. If your child is heterogeneous, then he will not have any symptoms like that of your wife. But if the child acquires hemoglobin E disease, then mild hemolytic anemia will be there with spleen enlargement. But this condition is not as severe like that of beta thalassemia disease.
4. There are no chances of the child developing beta thalassemia, which is altogether a different condition. Before conception, genetic counseling is advisable. Take care.
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Pathology
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