Hemochromatosis: a review.
Hemochromatosis is an autosomal recessive disorder that causes abnormal absorption of iron and results in iron overload. This disorder affects the liver, pancreas, heart, and endocrine systems, and if undetected and untreated, organ damage and death can result. The recent discovery of the gene associated with hemochromatosis has led to increased awareness of the disease and controversy over its diagnosis and treatment. Transferrin saturation is the best laboratory assay to detect the disease, and a liver biopsy is required to confirm a diagnosis. Current treatment involves therapeutic phlebotomy and iron-chelating agents. Information on diet modifications and genetic counseling for people affected with this disease should be included in patient education.
Dolbey
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Fletcher Allen Health Care, UHC Campus, Arnold 2, 1 South Prospect Avenue, Burlington, VT, 05401, USA. Christy.dolbey@vtmednet.org
D004032:Diet; D006432:Hemochromatosis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D010353:Patient Education as Topic / Q000458:organization & administration