Send to

Choose Destination
See comment in PubMed Commons below
J Rheumatol. 2003 Jan;30(1):121-5.

Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis.

Author information

  • 1Department of Medicine at the University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.



To determine if there is an association between radiographic osteoarthritis (OA) of the hand and the presence of hemochromatosis HFE gene mutations.


One hundred seventy-six patients with radiographic OA of the hand were randomly selected from an academic rheumatology practice. We measured serum transferrin saturation (TS) and ferritin levels, and genotyped for the presence of the 2 common HFE mutations, C282Y and H63D. The prevalences of HFE mutations in these patients were compared to those in a hemochromatosis screening study from the same primary care patient base.


There was a significantly increased prevalence of the C282Y mutation in the OA population compared to the unselected controls (12.5 vs 7.8%; p = 0.029). The prevalence of C282Y in OA was higher among older patients: 15.75% in the group older than 65 years versus 4.08% in the younger group. The mean TS level was higher among OA patients who were heterozygous for C282Y compared to those who lacked both HFE mutations (35.75 vs 25.93%; p < 0.0001). This difference was also found in the general population.


This is the first report to show an increased risk of OA among individuals who are heterozygous for the C282Y HFE mutation. The increase in this mutation in patients older than 65 suggests that this is associated with a late onset subset of OA. If this association is substantiated by larger randomized controlled studies, it could have major therapeutic implications in the development of specific therapy directed at individuals heterozygous for C282Y HFE mutation.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk