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June 1986

Hemochromatosis: The Missed Diagnosis

Author Affiliations

From the Veterans Administration Medical Center, Washington, DC.

Arch Intern Med. 1986;146(6):1209-1210. doi:10.1001/archinte.1986.00360180229034

Hemochromatosis is a hereditary disorder of the control of iron metabolism wherein the absorptive intestine accepts from the diet more iron than the body requires; because no excretory mechanism exists, the excess must be deposited in storage organs, ultimately to their detriment. In most cases, hemochromatosis is transmitted as an autosomal recessive condition. As yet, we know of no product whereby the abnormal gene can be identified. It is, however, closely linked to the HLA histocompatibility locus on chromosome 6. By identifying the HLA antigens it has been possible to determine with impressive probability which of the individuals in the kindreds of known patients are homozygous and which heterozygous. It is also probable that about 10%—or more—of the American population are carriers of the disease. It is one of the commonest abnormal genes in America.1

For 30 years, at least, consensus has decreed that hemochromatosis is a rare disease.

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