What is the outlook for a child with abnormal hemoglobin?

Question

Hi doctor,

My friend is going to adopt a 6 months old female child. Certain routine tests were performed on the child. I have attached the reports for your reference. The Hb electrophoresis for thalassemia screening is showing an abnormal hemoglobin pattern. The treating pediatrician is not sure about the prognosis that is whether the child will be symptomatic and transfusion dependent. Presently, the child is asymptomatic except for mild splenomegaly. Please suggest about the future prognosis of the child to facilitate the further course of action.

Answer 1

Hi,

Welcome to icliniq.com.

Based on your query and attached report (attachment removed to protect patient identity), my opinion is as follows:

Looking at the report of the HbD trait (hemoglobin D), the prognosis is excellent.
The child will be very rarely transfusion dependent and mostly asymptomatic.
However, in the future, counseling will be necessary, as this heterozygous variety could turn into a homozygous variety with other hemoglobinopathies such as sickle cell disease, thalassemia, etc., and affect the future generation.
The child will have mild splenomegaly and rarely hemolysis; otherwise, they will lead a normal life.
The risk of malarial infection will be very low due to this particular hemoglobin variety.
Maintaining good nutrition should be adequate, and no other management will be essential.

Answer 2

Hi,

Welcome back to icliniq.com.

No, beta thalassemia minor or trait cannot be ruled out. DNA analysis could be helpful.
As the levels of HbA2 (hemoglobin alpha 2) are very high, the HbD trait is strongly suspected. As the hemoglobin is near normal, possible mild disease with rare symptoms can only be thought of.
HbA1 will be absent or very mild in thalassemia major or intermedia. However, beta thalassemia minor cannot be ruled out based on electrophoresis.
In the future generation, when the girl here is planning for a family, at that point, genetic or electrophoresis test of the boy will be compulsory to rule out any hemoglobinopathies. If both have some hemoglobin disorder, then it can get compounded and the risk for the newborn is high.
For the girl, the prognosis is excellent, as she could survive with mild disease and will be rarely symptomatic.