title: 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.
mesh_terms: D004247:DNA / Q000235:genetics; D005312:Fetal Blood / Q000032:analysis; D005838:Genotype; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D013019:South Africa; D013789:Thalassemia / Q000453:epidemiology* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; C030448:hemoglobin Bart's