Prevalence and molecular basis of alpha thalassaemia in British South Asians.

Abstract

To determine the prevalence and molecular basis of alpha thalassaemia in the British South Asian population, and the implications for genetic screening for haemoglobin disorders. 397 South Asian Subjects were screened for haemoglobinopathy with measurement of bull blood count, haemoglobin electrophoresis, haemoglobin A2 quantification, and plasma ferritin determination. alpha Globin gene mapping was successfully performed on 266 stored buffy coat samples using a Southern blot technique after hybridisation with Bg/II and BamHI. Of the 266 subjects in whom gene mapping was performed, 28 had a single alpha+ thalassaemia deletion and one was homozygous for this deletion (gene frequency 0.056). Half of the heterozygotes had normal mean cell haemoglobin (MCH) values. A further 16 subjects had probable non-deletional alpha+ thalassaemia. None had alpha 0 thalassaemia. alpha Thalassaemia is by far the commonest haemoglobinopathy in British South Asian subjects, but is not a cause of serious genetic risk. Screening and counselling should focus on subjects with more marked red cell hypochromia (MCH < 25 pg), thus concentrating resources on subjects of different ethnic origins who may carry the alpha 0 thalassaemia gene.