Disease Information for Hemochromatosis: Definition

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  • A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary; Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron; Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease; Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6; most caes are homozygous for recessive gene and male;Excess iron is stored in body tissues, especially the liver, heart, and pancreas; Genetic or hereditary hemochromatosis is mainly associated with a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food; There are two known important mutations in HFE, named C282Y and H63D; C282Y is the most important; When C282Y is inherited from both parents, iron is overabsorbed from the diet and hemochromatosis can result; H63D usually causes little increase in iron absorption, but a person with H63D from one parent and C282Y from the other may rarely develop hemochromatosis

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