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Hereditary Hemochromatosis : Iron Stain

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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 develops as abundant iron-rich granules, highlighted here by Prussian Blue stain, are distributed around bile canaliculi.

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