Abstract
Hereditary hemochromatosis (HH) constitutes several inherited disorders characterized by an increased intestinal absorption of iron with its subsequent accumulation in tissues. Most (approximately 90%) patients with HH have mutations in HFE. Aproximately 95% of persons with HFE-related HH are homozygous for the C282Y mutation. Population studies indicate that the penetrane of the C282Y mutation is incomplete. Mutations in the iron-related genes encoding for hemojuvelin, hepcidin, ferroportin, trasnferrin receptor 2 and ferritin result in non-HFE related HH. In HFE-related HH the excess iron is preferentially deposited in the cytoplasm of parenhymal cells of varios organs, including the liver, pancreas, heart, endocrine glands, skin and joints. Symptoms are related to damage of this organs. The diagnosis includes iron studies, genetic testing and liver biopsy to assess the hepatic iron concentration and degree of liver injury. Because phlebotomy prevents and reverses the accumulation of excess iron, is the treatment of choice.
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