A Rare Hemoglobinopathy Presenting as Chronic Hyperbilirubinemia
Keywords:
Sickle beta thalassemia, Hb electrophoresis, HbS, HbF, HbAAbstract
Sickle beta thalassemia represents the double heterozygous state of HbS and beta-thalassemia genes. Clinical manifestation varies from those indistinguishable from homozygous sickle cell anemia to completely asymptomatic ones. This disorder is diagnosed by increased levels of HbS, HbF, mildly increased HbA2 and varying levels of HbA on Hemoglobin electrophoresis. We report a 13 yrs. old girl who presented to us with jaundice for one year with hepatosplenomegaly and no history of blood transfusions or sickle cell crisis. Hb electrophoresis clinched the diagnosis of sickle beta thalassemia.
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