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Question of the Day
A 9-month-old infant with beta-thalassemia major was initially normal at birth with no evidence of hemolysis or anemia. The presence of which hemoglobin is the MOST likely reason for this presentation at birth?
Explanation
Normal hemoglobin has two alpha and two beta globin protein chains. A deficiency or absence of the alpha chain results in Alpha-thalassemia and a deficiency or absence of one or more of the beta chains results in Beta-thalassemia. Newborns with Beta-thalassemia major usually are normal at birth because of the initial predominance of hemoglobin F. As this hemoglobin is replaced with defective hemoglobin, they develop anemia from hemolysis during the first year of life.
References:
Thalassemia
OA Series: May 2025
