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Evidence summaries

Iron-Overload-Related Disease in Hfe Hereditary Hemochromatosis

In persons homozygous for the C282Y mutation, at least 25% of men, but very few women appear to develop iron-overload-related disease. Level of evidence: "B"

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)

Primary/Secondary Keywords