Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling

L Krishnamurti; D H Chui; M Dallaire; B LeRoy; J S Waye; J P Perentesis

doi:10.1016/s0022-3476(98)70319-1

Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling

J Pediatr. 1998 May;132(5):863-5. doi: 10.1016/s0022-3476(98)70319-1.

Authors

L Krishnamurti¹, D H Chui, M Dallaire, B LeRoy, J S Waye, J P Perentesis

Affiliation

¹ Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455, USA.

PMID: 9602201
DOI: 10.1016/s0022-3476(98)70319-1

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Asia, Southeastern / ethnology
Child, Preschool
Female
Genetic Counseling
Genotype
Hemoglobin E / genetics*
Heterozygote
Humans
Infant, Newborn
Male
Neonatal Screening
alpha-Thalassemia / complications
alpha-Thalassemia / ethnology
alpha-Thalassemia / genetics*
beta-Thalassemia / complications
beta-Thalassemia / ethnology
beta-Thalassemia / genetics*

Substances

Hemoglobin E