L. Krishnamurti et al., COINHERITANCE OF ALPHA-THALASSEMIA-1 AND HEMOGLOBIN E BETA(0)-THALASSEMIA - PRACTICAL IMPLICATIONS FOR NEONATAL SCREENING AND GENETIC-COUNSELING/, The Journal of pediatrics, 132(5), 1998, pp. 863-865
Hemoglobin E (HbE), alpha-thalassemia, and beta-thalassemia are common
among Southeast Asians and often occur in compound heterozygous state
s that complicate neonatal screening. We describe a kindred with alpha
-thalassemia-1, HbE, and beta(0)-thalassemia. The proband had HbE/beta
(0)-thalassemia, with severe anemia and failure to thrive. His father
also had HbE/beta(0)-thalassemia but had coinherited a thalassemia-l a
nd was free of symptoms.