β^s Haplotypes, α-Globin Gene Status, and Hematological Data of Sickle Cell Disease Patients in Guadeloupe (F.W.I.)

Abstract

The β gene cluster haplotypes, α gene status, Hb F level and hematological parameters have been characterized in 154 unrelated Guadeloupe patients with sickle cell disease: 112 with sickle cell anemia, 26 with SC disease, 15 with Hb S-β-thalassemia, and one patient with Hb S in association with the hereditary persistence of fetal hemoglobin. Fourteen haplotypes in 16 combinations were found, the three major African haplotypes were present on 92% of all chromosomes: 73% Benin, 11% Bantu, 8% Senegal. Among SS patients, 57% were Benin homozygotes, one patient was a Senegal homozygote, one patient was a Bantu homozygote, and all the others were heterozygous. The ^Aγ^T chain was observed on seven chromosomes and about 5% of the analyzed β^S chromosomes exhibited atypical haplotypes. The common haplotype β^C was found in all patients with SC disease. An interesting feature was the high frequency (44%) of deletional α-thalassemia among SS patients. Two patients have an α-gene globin triplication. The DNA haplotypes and α-gene status have been correlated with hematological parameters in these patients. The anthropological aspect of these data is interesting as the haplotypes of the β-globin gene throw light on the slave trade from the various parts of Africa to the Caribbean Islands in particular, and North America in general.