Hemochromatosis

Contents of this Article

Causes of Hemochromatosis

Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. C282Y is the most important. In people who inherit C282Y from both parents, the body absorbs too much iron and hemochromatosis can result.

Those who inherit the defective gene from only one parent are carriers for the disease but usually do not develop it. However, they still may have higher than average iron absorption.

Neither juvenile hemochromatosis nor neonatal hemochromatosis are caused by an HFE defect. Juvenile and neonatal hemochromatosis are caused by a mutation in a gene called hemojuvelin.

References:
National Digestive Diseases Information Clearinghouse (NDDIC)
April 2007
digestive.niddk.nih.gov

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