Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-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.
Krishnamurti
L
L
Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455, USA.
Chui
D H
DH
Dallaire
M
M
LeRoy
B
B
Waye
J S
JS
Perentesis
J P
JP
D000328:Adult; D001210:Asia, Southeastern / Q000208:ethnology; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D017085:alpha-Thalassemia / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D017086:beta-Thalassemia / Q000150:complications / Q000208:ethnology / Q000235:genetics*
D006446:Hemoglobin E