Iron-Overload-Related Disease in Hfe Hereditary Hemochromatosis

A prospective cohort study 1 with 12-year follow-up of 203 C282Y homozygotes of Northern European descent aged 40-69 years in Australia found that 28.4% of men, but only 1.2% of women had documented iron-overload-related disease (cirrhosis, liver fibrosis, hepatocellular carcinoma, elevated aminotransferase levels, physician-diagnosed symptomatic hemochromatosis, or arthropathy of second or third MCP joints). Only one non-C282Y homozygote had iron-overload-related disease.

Comment: The quality of evidence is upgraded by large magnitude of effect (large difference between men and women)

References

• Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358(3):221-30. http://content.nejm.org/cgi/content/full/358/3/221