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Disease Etiology
Hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder that results in primary iron overload (1). Mutations in the hemochromatosis gene (HFE), most commonly a Cys to Tyr substitution at esidue 282 (C282Y mutation), result in reduced hepcidin expression and high rates of gastrointestinal iron absorption (1). The vast majority (85-90%) of inherited iron overload cases are due to a homozygous C282Y mutation, with a small number related to compound