, Volume 15, Issue 4, pp 347-350

First online:

Do some carriers of hemochromatosis gene mutations have higher than normal rates of disease and death?

  • E.D. WeinbergAffiliated withDepartment of Biology and Program in Medical Sciences, IndianaUniversity

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Some heterozygote carriers of hemochromatosis HFE gene mutations become iron loaded with ensuing increased risk of disease and premature death. Contributing nutritional, behavioral and genetic factors are beginning to be identified. Carriers of HFE gene mutations should be advised to minimize contributing factors, if possible, and to have their iron values tested periodically. If values begin to rise, a schedule of phlebotomies should be considered.

Cys282Tyr disease risk in HFE gene mutation carriers hemochromatosis HFE gene mutation carriers His63Asp iron loading in HFE gene mutation carriers transferrin receptor gene mutation