The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients

Haematologica. 2004 Apr;89(4):490-2.

Abstract

In this study, we evaluated the impact of mutations of the HFE and ferroportin gene on iron overload in thalassemia intermedia and betas/betathal patients. Neither HFE (C282Y and H63D) nor ferroportin(Val162del) mutations were determinants of total body iron status, as assessed by ferritin levels, in either group of patients.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Anemia / etiology
  • Cation Transport Proteins / genetics*
  • Female
  • Ferritins / blood
  • Genotype
  • Greece
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron Overload / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation, Missense*
  • Thalassemia / metabolism

Substances

  • Cation Transport Proteins
  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • metal transporting protein 1
  • Ferritins