slc40a1 q248h allele frequencies and associated slc40a1 haplotypes in three west african population samples background ferroportin is a transmembrane protein responsible for iron export from enterocytes and macrophages mutation c744g t q248h located in exon 6 of the ferroportin gene slc40a1 is found as a polymorphism in populations of african origin this mutation has been extensively analysed in africanamericans but poorly studied in native african populationsaim to increase information about q248h mutation frequency in native subsaharan populations examining three west african populationssubjects and methods samples from s tom e prncipe n 115 angola n 156 and republic of guinea n 170 were analysed for q248h mutation and for two polymorphisms ivs1 24g c and microsatellite cggn using standard molecular methodologyresults the estimated frequencies of q248h allele were 22 in s tom e prncipe 35 in angola and 41 in republic of guinea analysis of polymorphisms ivs1 24g c and cggn showed mutation allele c744t to be strongly associated with haplotype ivs1 24gcgg7conclusions this study confirmed the presence of q248h mutation at polymorphic frequencies in three native subsaharan populations analysis of two additional markers in the same gene support a single origin of the mutant allele c744t in the haplotype background ivs1 24gcgg7