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hereditary hemochromatosis

 

Definition: chronic liver disease caused by excessive intestinal absorption of elemental iron; characterized by elevated serum iron saturation, transferrin, and ferritin levels; improves with phlebotomy. Affected patients at increased risk of developing cirrhosis, liver cancer, and liver failure. Associated clinical manifestations include diabetes mellitus, cardiomyopathy, bronze skin, and pseudogout. In whites, 80% have an HFE gene mutation (C282Y homozygote or C282Y/C63D compound heterozygote) transmitted in an autosomal recessive fashion.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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