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June 1974


Author Affiliations

La Jolla, Calif

Arch Intern Med. 1974;133(6):1072. doi:10.1001/archinte.1974.00320180190020

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To the Editor.  —Dr. Scheinberg's essay on "The Genetics of Hemochromatosis" in the Archives (132:126, 1973) presents an interesting hypothesis that hemochromatosis is attributable to a recessive gene with variable manifestations in heterozygotes. While this may prove to be a valid conclusion, Dr. Scheinberg's definition of hemochromatosis is not entirely satisfactory:Primary or idiopathic hemochromatosis is a rare illness, worldwide in distribution, and clinically characterized by the combination of cirrhosis, diabetes, skin pigmentation, cardiac disorders, and onset of manifest disease in adult life. The serum iron level is elevated in the range of 200μg/100 ml, and the latent or unsaturated iron-binding capacity (UIBC) in the serum is very low, often approaching zero. By middle age, the body content of iron—20 to 60 gm—is 5 to 15 times that of a normal adult, with much of the iron present in the parenchymal cells of the liver, and some in the cells

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