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March 10, 1962

Familial Aspects of Idiopathic Hemochromatosis

Author Affiliations

Bridgeport, Conn.; White River Junction, Vt.

From the Department of Medicine, White River Junction, Vt., Veterans Administration Hospital and former Senior Resident in Medicine, Mary Hitchcock Hospital (Dr. Johnson) and Instructor in Medicine, Dartmouth Medical School (Dr. Frey).

JAMA. 1962;179(10):747-751. doi:10.1001/jama.1962.03050100001001

WHETHER or not idiopathic hemochromatosis is a genetically determined disease is still controversial. Because of the clinically proved fact1-4 that phlebotomy therapy certainly ameliorates and possibly permanently reverses the natural course of idiopathic hemochromatosis, we have undertaken a study of 1 family with 2 biopsy-proved instances of hemochromatosis. It is often difficult to ascertain from the literature the actual size of those families purported to have more than one member afflicted with hemochromatosis. Hence, in this family, we expanded our study to include virtually every living relative over the age of 5 years.

In his excellent monograph Sheldon5 (p. 339) stated, "The view advanced as the most reasonable explanation of hemochromatosis is that it should be classed as an inborn error of metabolism, which has an overwhelming incidence in males, and which at times actually has a familial incidence." He cited in his review 7 instances of hemochromatosis