A Case of Homozygous Beta+-Thalassemia

Abstract

Although sickle cell disease is well documented in The Gambia, West Africa, and α-thalassemia has also been identified, we are not aware that β-thalassemia has been reported previously. We presented here a 5-year-old Gambian female with homozygous β⁺-thalassemia. Genetic analysis revealed the c.316-3C>A variant (also known as IVSII-848(C>A)) in the HBB gene. Since at least one hemoglobin subunit β mutation for β-thalassemia is present in The Gambia, and carrier status of sickle hemoglobin (HbS) is common, the possibility of homozygous β-thalassemia and HbS β-thalassemia should be considered in individuals with the appropriate clinical features and consistent laboratory findings.