title: Genotype-phenotype correlation of sickle cell disease in the United Arab Emirates.
abstract: We have identified the beta s-globin gene haplotypes of 85 patients with sickle cell disease attending the Dubai Thalassemia Center and assessed the influence of haplotype, alpha-thalassemia, and fetal hemoglobin on the clinical presentation. Identification of the beta s haplotypes was based on mutation analyses in the promoter sequences of the G gamma- and A gamma-globin genes. The Arabian-Indian haplotype was found in 52% of the beta s chromosomes, whereas the remaining were the Bantu and Benin haplotypes. Those with the Arabian-Indian haplotype in this group had a significantly higher fetal hemoglobin (Hb F) level (mean 27%) and a milder clinical course. In contrast, those with the African haplotypes, Bantu and Benin, expressed relatively lower Hb F levels (mean 11.3%), with a severe clinical presentation. Coinheritance of alpha-thalassemia trait in the African haplotypes had an ameliorating effect on hemolytic episodes, but vaso-occlusive crises were more frequent.
authors.affiliation: Department of Pediatrics and Genetics, Al Wasl Hospital, Dubai, United Arab Emirates.
authors.forename: S
authors.initials: S
authors.lastname: el-Kalla
authors.forename: E
authors.initials: E
authors.lastname: Baysal
mesh_terms: D000755:Anemia, Sickle Cell / Q000453:epidemiology* / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D010641:Phenotype; D014479:United Arab Emirates / Q000453:epidemiology
chemical_list: D005914:Globins