title: Sickle cell anemia in the Tunisian population: haplotyping and HB F expression.
abstract: Thirty-three Tunisian patients, homozygous for Hb S, were examined. Haplotyping using nine restriction sites in the beta-globin gene cluster revealed that the most common type is the Benin type [---- + - + - +] which occurs at a frequency of 0.94% (31 cases); only one patient was homozygous for an atypical haplotype which shows some differences with the Benin haplotype at sites 1, 5, 6, and 8 [+ ---- + + + +]; the two remaining patients were assumed to be double heterozygotes for the Benin and atypical haplotypes. The presence of the atypical haplotype suggested a double origin of the beta S gene in Tunisia. Moreover, a heterogeneity in the Hb F production was observed, ranging between 2 to 16%, whereas the G gamma-globin expression was remarkably homogeneous in our patients with a normal amount approaching 40%. These results suggested the presence of a combination of several control factors.
authors.affiliation: Hopital d'Enfants, Tunis, Tunisie.
authors.forename: S
authors.initials: S
authors.lastname: Abbes
authors.forename: S
authors.initials: S
authors.lastname: Fattoum
authors.forename: M
authors.initials: M
authors.lastname: Vidaud
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: J
authors.initials: J
authors.lastname: Rosa
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004641:Emigration and Immigration; D005319:Fetal Hemoglobin / Q000032:analysis*; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007223:Infant; D011110:Polymorphism, Genetic; D014416:Tunisia / Q000453:epidemiology
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin