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About 1 in 200 people of northern European descent carry a homozygous C282Y mutation in the hemochromatosis (HFE) gene. This mutation can result in continuing mucosal iron absorption despite saturated body iron stores. Accumulation of iron in tissues, particularly in the liver and the second and third metacarpophalangeal (m-p) joints, can cause cirrhosis, hepatocellular carcinoma, and arthritis. However, whether all people who carry the homozygous mutation will develop disease is unknown. Knowledge of disease prevalence is important, because recognizing and promptly treating the disorder can prevent permanent damage.
University investigators who were participating in the Melbourne Collaborative Cohort Study performed analyses of the HFE gene…