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The Syndrome of Hemochromatosis

C. A. Finch, M.D.; T. H. Bothwell, M.D.
Arch Intern Med. 1961;107(6):807-810. doi:10.1001/archinte.1961.03620060007003.
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Idiopathic hemochromatosis has gained acceptance as a definite entity because of its distinctive clinical and pathologic features. Hepatomegalic cirrhosis is always present, skin pigmentation and diabetes are found in the majority of patients, and cardiac manifestations are not uncommon. Pathologically the striking features are the widespread deposits of iron in parenchymal tissues together with portal cirrhosis. In a most comprehensive review of the literature in 1935 Sheldon1 came to the conclusion that there was no direct relationship between the excess iron and the cirrhosis and speculated that both were the result of some inborn error in metabolism. Over the last 25 years idiopathic hemochromatosis has remained a major challenge to investigators and although the nature of the fundamental defect remains unknown, insight has been obtained into the reason for the excessive deposits of iron, and, in addition, the relationship between these deposits and tissue damage has been more clearly


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