No 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 – α^3.7/αα r– α^3·7/–α^3–7. The observed frequency of the –α/αα 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 g-globin locus in three subjects with HbH disease revealed the presence of the – –^SEA/α-thalassaemia determinant in this population.