title: Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population.
abstract: The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15.17% (+/-2.1%) for the H63D and 0.09% (+/-0.17%) for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y. This study will be completed by determining whether homozygote trait for H63D and associated risk factors (beta thalassémia) can lead to iron overload in Tunisia.
authors.affiliation: National Blood Transfusion Centre, Rue Djebel Lakdhar Bab Saadoun, 1006 Tunis, Tunisia.
authors.forename: R
authors.initials: R
authors.lastname: Sassi
authors.forename: Slama
authors.initials: S
authors.lastname: Hmida
authors.forename: H
authors.initials: H
authors.lastname: Kaabi
authors.forename: A
authors.initials: A
authors.lastname: Hajjej
authors.forename: A
authors.initials: A
authors.lastname: Abid
authors.forename: S
authors.initials: S
authors.lastname: Abdelkefi
authors.forename: S
authors.initials: S
authors.lastname: Yacoub
authors.forename: M
authors.initials: M
authors.lastname: Maamar
authors.forename: N
authors.initials: N
authors.lastname: Mojaat
authors.forename: L
authors.initials: L
authors.lastname: Ben Hamed
authors.forename: H
authors.initials: H
authors.lastname: Bellali
authors.forename: A
authors.initials: A
authors.lastname: Dridi
authors.forename: A
authors.initials: A
authors.lastname: Jridi
authors.forename: B
authors.initials: B
authors.lastname: Midouni
authors.forename: M K
authors.initials: MK
authors.lastname: Boukef
mesh_terms: D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011153:Population; D014416:Tunisia / Q000453:epidemiology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins