Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population

The cord blood of 1,207 randomly selected neonates from the Cape Coloured population of South Africa was analysed for the presence of Hb Barts. 40 individuals (3.3%) had detectable Hb Barts levels with values ranging from 1.1 to 7.3%. Restriction enzyme analysis of DNA from subjects with Hb Barts sh...

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Bibliographic Details
Published inActa haematologica Vol. 73; no. 3; p. 159
Main Authors Rousseau, J, Mathew, C G, Rees, J S, du Toit, E, Botha, M C, Harley, E H
Format Journal Article
LanguageEnglish
Published Switzerland 1985
Subjects
DNA - genetics
Fetal Blood - analysis
Genotype
Globins - genetics
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
Humans
Infant, Newborn
South Africa
Thalassemia - epidemiology
Thalassemia - genetics
South Africa
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Summary:The cord blood of 1,207 randomly selected neonates from the Cape Coloured population of South Africa was analysed for the presence of Hb Barts. 40 individuals (3.3%) had detectable Hb Barts levels with values ranging from 1.1 to 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 sigma-globin locus in three subjects with HbH disease revealed the presence of the--SEA/alpha-thalassaemia determinant in this population.
ISSN:0001-5792
DOI:10.1159/000206310