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

Abstract

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.

Cite this paper

@article{Rousseau1985IncidenceOH, title={Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population.}, author={J W Rousseau and C. G. P. Mathew and Jeremy Simon Rees and Ernette D du Toit and M C Botha and E. H. Harley}, journal={Acta haematologica}, year={1985}, volume={73 3}, pages={159-62} }