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Hemochromatosis survey reveals disease-related
conditions in relatives
Findings ‘emphasize the importance of screening relatives,’ say researchers
Edward R. Winstead

Hemochromatosis is a relatively common metabolic disorder in which iron accumulates in the body. The gene linked to inherited forms of the disease is known, and dozens of laboratories offer DNA testing for mutations. Screening for hemochromatosis has been proposed, but not all carriers of mutations develop the sometimes-fatal condition.

A new study examines the frequency of hemochromatosis-related symptoms in relatives of affected individuals. The study, by researchers at the University of Utah School of Medicine, included 214 relatives of 291 affected individuals. Evidence of iron overload was detected in 96 of the male relatives and in 69 of the female relatives. All subjects had two mutated copies of the HLA-linked hemochromatosis gene, or HFE.

Overall, a substantial number of the relatives had changes in iron levels that were associated with hemochromatosis but that went undetected during prior clinical examinations. Disease-related symptoms were found in 52 percent of males over age 40 and in 16 percent of females over age 50.

"Our data emphasize the importance of screening relatives of persons with hemochromatosis," the researchers write in their paper. James P. Kushner, of the Division of Hematology, University of Utah School of Medicine, led the study, which appears in the New England Journal of Medicine. The frequency of hemochromatosis among Caucasians is about 1 in 200.

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Bulaj, Z.J. et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 343, 1529-1535 (November 23, 2000).

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