CORWIN Q. EDWARDS, M.D.
Hereditary hemochromatosis is inherited as an autosomal recessive trait linked to the histocompatibility locus on the short arm of chromosome six (1-4). Homozygosity for hemochromatosis among whites is probably common, with an estimated gene frequency of 0.05 to 0.088, corresponding to a heterozygote frequency of 10% to 16% and a disease frequency of 3 to 8 per 1000 population (5-8). Because many persons may have undiagnosed hereditary hemochromatosis, there is need for a simple, inexpensive test to identify young hemochromatosis homozygotes. Because a defective gene product has not been identified, alternates (such as blood tests of iron stores) have to
EDWARDS CQ. Early Detection of Hereditary Hemochromatosis. Ann Intern Med. ;101:707–708. doi: 10.7326/0003-4819-101-5-707
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Published: Ann Intern Med. 1984;101(5):707-708.
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