title: Inherited anaemias in the Greek community of Cape Town.
abstract: Cape Town has a Greek community of about 5000, of whom approximately 75% originate from the island of Lesbos. In a survey of inherited haematological conditions in this population, 250 unrelated volunteers were investigated. The prevalence of heterozygous beta-thalassaemia was found to be 6.4%, with a gene frequency of 0.033. G6PD deficiency was detected in 10 males and it can be estimated that the prevalence in the male members of this population is 6.7%, with a gene frequency of 0.067. Hereditary spherocytosis was found in three respondents and this represents a prevalence of 1.2%, with a gene frequency of 0.006. One subject was heterozygous for the sickle cell trait (HbS) and another volunteer had haemoglobin Lepore, which had already been diagnosed in Greece. Our findings with respect to beta-thalassaemia and G6PD deficiency are similar to those reported from regions in Greece where malaria is not highly endemic.
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006115:Greece / Q000208:ethnology; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D013019:South Africa; D013103:Spherocytosis, Hereditary / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal