Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene

Clin Invest Med. 1998 Dec;21(6):251-7.


Objective: To determine whether a specific mutation (C282Y) associated with primary hemochromatosis (PHC) is more common in patients with type 2 diabetes than in a control group of patients with type 1 diabetes. Patients with type 2 diabetes have a two- to threefold higher rate of PHC than the general population. Recent identification of a genetic mutation in patients with PHC raises the possibility that the mutation is related to type 2 diabetes.

Design: Cross-sectional study.

Subjects: One hundred and five patients with type 2 diabetes and 103 control patients with type 1 diabetes, who attended the same tertiary care diabetes clinic, who were of European origin, and in whom there was no clinical suspicion of hemochromatosis.

Interventions: Patients completed a brief clinical assessment and provided a blood sample. Iron studies were measured in serum, and DNA was assayed for the presence of the C282Y and H63D mutations of the HFE gene.

Results: Twenty-three of 105 patients (21.9%, 95% confidence interval [CI] 14.0, 29.8) with type 2 diabetes (1 homozygote) and 12 of 103 patients (11.7%; 95% CI 5.5, 17.9) with type 1 diabetes (all heterozygotes) had at least 1 copy of the C282Y mutation (odds ratio [OR] = 2.1; 95% CI 1.0, 4.5; p = 0.048). Neither serum ferritin nor transferrin saturation level identified patients with a C282Y mutation.

Conclusion: The C282Y gene mutation is a potential genetic marker for type 2 diabetes. It, or a closely linked gene, may be associated with greater than 20% of cases of type 2 diabetes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cysteine / genetics
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Hemochromatosis / genetics*
  • Humans
  • Male
  • Middle Aged
  • Point Mutation*
  • Tyrosine / genetics


  • Tyrosine
  • Cysteine