Portal de Periódicos da CAPES

Penetrance of Hemochromatosis

2002; Elsevier BV; Volume: 29; Issue: 3 Linguagem: Inglês

10.1006/bcmd.2002.0596

1096-0961

Jill Waalen, Vincent J. Felitti, Terri Gelbart, Ngoc J. Ho, Ernest Beutler,

Trace Elements in Health

ABSTRACT We undertook a three-year screening program for mutations of the HFE gene among 41,000 subjects attending the Kaiser Permanente Health Appraisal Center in San Diego, California. Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy. The very low clinical penetrance of the HFE mutations must be taken into account in calculating cost/benefit and risk/benefit ratios in screening for hemochromatosis.