Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype.
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.
Patrinos
George P
GP
LAIKON General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece.
Samperi
Piera
P
Lo Nigro
Luca
L
Kollia
Panagoula
P
Schiliro
Gino
G
Papadakis
Manoussos N
MN
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
D006454:Hemoglobins; D005914:Globins