Incidence of Hb Barts and α-Thalassaemia Genotypes in a South African Population
- 1 January 1985
- journal article
- research article
- Published by S. Karger AG in Acta Haematologica
- Vol. 73 (3), 159-162
- https://doi.org/10.1159/000206310
Abstract
The cord blood of 1207 randomly selected neonates from the Cape Colored population of South Africa was analyzed for the presence of Hb Barts. Forty individuals (3.3%) had detectable Hb Barts levels with values ranging from 1.1-7.3%. Restriction enzyme analysis of DNA from subjects with Hb Barts showed that 85% of the cases studied had the genotypes - .alpha.3.7/.alpha..alpha. or -.alpha.3.7/.alpha.3.7. The observed frequency of the -.alpha./.alpha..alpha. genotype was much lower than the expected frequency which suggests that this genotype is often not associated with detectable levels of Hb Barts. Mapping of the .zeta.-globin locus in 3 subjects with HbH disease revealed the presence of the --SEA/.alpha.-thalassemia determinant in this population.This publication has 5 references indexed in Scilit:
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