title: Molecular characterization of G6PD deficiency in Oman.
abstract: Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A- (the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.
authors.affiliation: Department of Haematology, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman.
authors.forename: S
authors.initials: S
authors.lastname: Daar
authors.forename: T J
authors.initials: TJ
authors.lastname: Vulliamy
authors.forename: J
authors.initials: J
authors.lastname: Kaeda
authors.forename: P J
authors.initials: PJ
authors.lastname: Mason
authors.forename: L
authors.initials: L
authors.lastname: Luzzatto
mesh_terms: D005260:Female; D005820:Genetic Testing; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009850:Oman