Hereditary hemochromatosis: pathophysiology, diagnosis, and management.

Abstract excerpt

Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease resulting in inappropriate intestinal iron absorption leading to iron overload and end-organ disease. The disease is most prevalent in white individuals of European descent. The C282Y mutation on the HFE gene accounts for most cases of HH; however, other genetic mutations have been identified. End-organ damage results in cirrhosis, diabetes...

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