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Hereditary Hemochromatosis

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Primary iron overload disorders typically result from genetic mutations, which alter iron homeostasis in the GI tract and liver; examples include classic HFE-related hereditary hemochromatosis (HH), non-HFE hereditary hemochromatosis, aceruloplasminemia, and others. In the classic form of HH, an autosomal recessive disorder, there is a missense mutation in HFE gene located on chromosome 6p. In Northern Europe, more than 90% of HFE-related HH patients are homozygous for C282Y mutation. The first histologic abnormality is stainable iron in the periportal hepatocytes. As iron deposition increases, parenchymal siderosis (as seen here) develops as abundant iron-rich granules are distributed around bile canaliculi.

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