Title of article :
Penetrance of Hemochromatosis
Author/Authors :
Jill Waalen، نويسنده , , Vincent Felitti، نويسنده , , Terri Gelbart، نويسنده , , Ngoc J. Ho، نويسنده , , Ernest Beutler، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2002
Pages :
15
From page :
418
To page :
432
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.
Journal title :
Blood Cells, Molecules and Diseases
Serial Year :
2002
Journal title :
Blood Cells, Molecules and Diseases
Record number :
498575
Link To Document :
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