Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling

Abstract

Hemoglobin E (HbE), α-thalassemia, and β-thalassemia are common among Southeast Asians and often occur in compound heterozygous states that complicate neonatal screening. We describe a kindred with α-thalassemia-1, HbE, and β0-thalassemia. The proband had HbE/β0-thalassemia, with severe anemia and failure to thrive. His father also had HbE/β0-thalassemia but had coinherited αthalassemia-1 and was free of symptoms.