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Hemochromatosis

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Key Points ����Hereditary hemochromatosis (HH) remains the most common identified genetic disorder in Caucasians. ����The principal defect is a point mutation in the hemochromatosis gene (HFE) that produces the C282Y protein leading to excess dietary iron absorption. C282Y homozygotes account for 80%-85% of typical patients with HH with a small minority who are C282Y/H63D compound heterozygotes. ����Although its geographic distribution is worldwide, HH is seen most commonly in populations of northern European origin, particularly Nordic or Celtic ancestry, in which it occurs with a prevalence of approximately 1 per 220-250 individuals. ����HH may lead to the development of life-threatening complications��� cirrhosis, hepatocellular carcinoma (HCC), diabetes, and heart disease. ����Phenotypic expression occurs in approximately 70% of C282Y homozygotes, but fewer than 10% of C282Y homozygotes will develop severe iron overload accompanied by organ damage and clinical manifestations of hemochromatosis. ����In 2000, The European Association for the Study of Liver Diseases defined three stages of HH to allow clinicians to categorize patients who have positive genetic test results: ������ Stage 1: Patients with the genetic disorder with no increase in iron stores. ������ Stage 2: Patients with the genetic disorder who have phenotypic evidence of iron overload but who are without tissue or organ damage. ������ Stage 3: Patients who have the genetic disorder with iron overload and have iron deposition to the degree that tissue and organ damage occurs.

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