Dictionary of Human Evolution and Biology

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Hemochromatosis, Hereditary

An autosomal recessive condition characterized by defective iron metabolism that overloads iron storage sites such as the liver, and that can progress to liver cancer. Symptoms include chronic fatigue, infections, hair los, skin pigmentation, infertility, muscle pain, liver damage, diabetes, and the perception of feeling cold. Fatal if left untreated. According to the CDC, hemochromatosis is the most common serious genetic disorder in humans. Current treatment includes therapeutic phlebotomy and ferritin monitoring; females often have less severe symptoms owing to menstruation. There is a parent-of-origin effect. Of four common forms, the classic (HH, HFE1) and the more severe juvenile onset forms (JH, HFE2) are the most prevalent. The affected locus (C282Y in the HFE1 gene) can be detected by a simple clinical test.

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