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

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

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