Madani, H.A.Afify, R.A.Abdel Aal, A.A.Salama, N.Ramy, N.2014-06-172014-06-172011-12-311020-3397http://www.emro.who.int/emhj/V17/06/17_6_2011_0546_0551.pdfhttps://iris.who.int/handle/10665/118656546-551A 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 [3-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 HFE gene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controlsenMutationbeta-ThalassemiaCase-Control StudiesHeterozygoteGenotypePolymerase Chain ReactionIron Overload