Hemochromatosis

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Causes and Risk Factors

Hemochromatosis is characterized by a build-up of iron in cells of the body that causes tissue damage and can lead to organ failure. Primary hemochromatosis results from a genetic (inherited) abnormality of the HFE gene, which helps regulate iron absorption.

More than 20 different mutations of this gene have been identified and the two most common have been labeled C282Y and H63D. Juvenile hemochromatosis and neonatal hemochromatosis are caused by a mutation of another gene, called hemojuvelin (HJV or HFE2).

People who have two copies of the defective gene (i.e., who have inherited the abnormal gene from both parents) are at highest risk for developing hemochromatosis. A high dietary intake of iron usually does not cause the disorder, unless a genetic abnormality is present.

Men have a higher risk for developing symptoms of hemochromatosis than women, because women lose iron through menstruation and during pregnancy. In women, risk for the condition increases after menopause.

The risk for developing secondary hemochromatosis is higher in people who have certain types of anemia (e.g., thalassemia, chronic hemolytic anemia), chronic liver disease (e.g., hepatitis, cirrhosis), or a history of alcohol abuse, which can cause liver damage.

Hemochromatosis is more common in people of northern European descent (i.e., from Denmark, Finland, Sweden, Norway, Iceland, Germany, or Great Britain). The disorder also affects Caucasians more often than people of other races (e.g., African Americans, Hispanics, Native Americans).

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