title: beta S haplotypes, alpha-globin gene status, and hematological data of sickle cell disease patients in Guadeloupe (F.W.I.).
abstract: The beta gene cluster haplotypes, alpha 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-beta-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 A gamma T chain was observed on seven chromosomes and about 5% of the analyzed beta S chromosomes exhibited atypical haplotypes. The common haplotype beta C was found in all patients with SC disease. An interesting feature was the high frequency (44%) of deletional alpha-thalassemia among SS patients. Two patients have an alpha-gene globin triplication. The DNA haplotypes and alpha-gene status have been correlated with hematological parameters in these patients. The anthropological aspect of these data is interesting as the haplotypes of the beta-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.
authors: INSERM U.359, CHRU Pointe-à-Pitre, Guadeloupe, France.
authors: L
authors: L
authors: Kéclard
authors: V
authors: V
authors: Ollendorf
authors: C
authors: C
authors: Berchel
authors: H
authors: H
authors: Loret
authors: G
authors: G
authors: Mérault
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D005914:Globins / Q000737:chemistry* / Q000235:genetics*; D019430:Guadeloupe; D006239:Haplotypes; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D005810:Multigene Family; D017085:alpha-Thalassemia / Q000235:genetics
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin