Prevalence of HFE (hemochromatosis gene) mutations in unselected male patients with type 2 diabetes

J Lab Clin Med. 2000 Feb;135(2):170-3. doi: 10.1067/mlc.2000.104464.


To assess the prevalence of mutations in the HFE (hemochromatosis) gene in unselected male patients with type 2 diabetes, we examined 220 white men without known diabetes and 220 age-matched white men with type 2 diabetes for mutations in the HFE gene. Nucleotide 845 (C282Y) and 187(H63D) alleles were amplified by polymerase chain reaction (PCR) with lymphocyte DNA. The PCR products were analyzed by restriction enzyme digestion. One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutation and 25 (11.3%) were heterozygous for the same mutation, of whom 3 (1.3%) were compound heterozygotes also carrying the HFE 187G (H63D) mutation. These frequencies did not differ significantly from the control population without diabetes. There is no evidence that HFE mutations are found in excess in unselected male patients with type 2 diabetes, and there is no indication for a population-based search for an excess of these alleles in type 2 diabetes.

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Amino Acid Substitution
  • DNA / blood
  • Diabetes Mellitus, Type 2 / blood
  • Diabetes Mellitus, Type 2 / genetics*
  • England
  • European Continental Ancestry Group
  • Ferritins / blood
  • HLA Antigens / genetics*
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Heterozygote
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Iron / blood
  • Lymphocytes / blood
  • Male
  • Membrane Proteins*
  • Middle Aged
  • Point Mutation*
  • Polymerase Chain Reaction


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