title: Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt.
abstract: A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in beta-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers (24.4%). The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFEgene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls.
authors.affiliation: Department of Chemiakl and Clinical Pathology, University of Cairo, Cairo, Egypt. hamadani20@hotmail.com
authors.forename: H A
authors.initials: HA
authors.lastname: Madani
authors.forename: R A
authors.initials: RA
authors.lastname: Afify
authors.forename: A A
authors.initials: AA
authors.lastname: Abd El-Aal
authors.forename: N
authors.initials: N
authors.lastname: Salama
authors.forename: N
authors.initials: N
authors.lastname: Ramy
mesh_terms: D002353:Carrier State; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019190:Iron Overload / Q000209:etiology*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron