Author/Authors :
Madani, H.A. University of Cairo - Faculty of Medicine - Department of Chemical and Clinical Pathology, Egypt , Afify, R.A. University of Cairo - Faculty of Medicine - Department of Chemical and Clinical Pathology, Egypt , Abd El-Aal, A.A. University of Cairo - Faculty of Medicine - Department of Chemical and Clinical Pathology, Egypt , Salama, N. University of Cairo - Faculty of Medicine - Department of Paediatric Medicine, Egypt , Ramy, N. University of Cairo - Faculty of Medicine - Department of Paediatric Medicine, Egypt
Abstract :
A case–control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in β-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 β-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 β-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 β-thalassaemia carriers compared with normal controls.
