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.
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Based on your query and attached report (attachment removed to protect patient identity), my opinion is as follows:
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Thank you doctor,
From the Hb electrophoresis pattern, is it possible to ascertain that it is a HbD heterozygous trait only and not associated with beta thalassemia? There are certain case reports where a Hb D heterozygous trait is associated with beta thalassemia .Besides, as per your statement, this heterozygous variety could turn into homozygous variety with other hemoglobinopathies. If so, then how come the prognosis is excellent? The pedigree of the child is unknown.
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