Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt

East Mediterr Health J. 2011 Jun;17(6):546-51.

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.

MeSH terms

  • Carrier State
  • Case-Control Studies
  • Egypt
  • Female
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron / metabolism*
  • Iron Overload / etiology*
  • Membrane Proteins / genetics*
  • Mutation
  • Polymerase Chain Reaction
  • beta-Thalassemia / complications
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / metabolism

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Iron