title: Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype.
abstract: There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the beta(S)/Bantu haplotype is heterogeneous at the molecular level. Here, we report the presence of the (A)gamma -499 T-->A variation in sickle cell anemia chromosomes of Sicilian and North African origin bearing the beta(S)/Benin haplotype. Being absent from North American beta(S)/Benin chromosomes, which were studied previously, this variation is indicative for the molecular heterogeneity of the beta(S)/Benin haplotype.
authors.affiliation: LAIKON General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece.
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Piera
authors.initials: P
authors.lastname: Samperi
authors.forename: Luca
authors.initials: L
authors.lastname: Lo Nigro
authors.forename: Panagoula
authors.initials: P
authors.lastname: Kollia
authors.forename: Gino
authors.initials: G
authors.lastname: Schiliro
authors.forename: Manoussos N
authors.initials: MN
authors.lastname: Papadakis
mesh_terms: D000352:Africa, Northern; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002874:Chromosome Mapping; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D007558:Italy
chemical_list: D006454:Hemoglobins; D005914:Globins