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classic hemochromatosis


Definition: a specific inherited metabolic defect [MIM*235200] that increases absorption and accumulation of iron on a normal diet. It is inherited as autosomal recessive and is caused by a mutation in the gene HFE on chromosome 6p21.3.

Synonym(s): hemochromatosis type 1

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.