Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster.
A haplotype of restriction fragment length polymorphisms in the beta S globin gene cluster was determined in six different African and Asian ethnic groups with sickle cell disease. The geographical distribution of a particular haplotype, designated Asian beta S haplotype, coincides with the occurrence of raised Hb F levels in sickle cell disease. Detailed hematologic and genetic studies of a large geographically isolated group of Orissan Indian patients with sickle cell disease and a mixed Asian Indian group with homozygous beta thalassemia provided evidence that the determinant responsible for raised Hb F levels is linked to the beta globin gene cluster. The possible nature of this determinant is discussed.
D000349:Africa; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics*; D001208:Asia; D005319:Fetal Hemoglobin / Q000235:genetics*; D005796:Genes; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India; D009154:Mutation
D005914:Globins; D005319:Fetal Hemoglobin