A 6-year survey of HFE gene test for hemochromatosis diagnosis

被引：5

作者：

Mura, C ^{[1
]}

Raguénes, W ^{[1
]}

Scotet, V ^{[1
]}

Jacolot, S ^{[1
]}

Mercier, AY ^{[1
]}

Férec, C ^{[1
]}

机构：

[1] INSERM, Unite 613, UBO, F-29200 Brest, France

来源：

GENETICS IN MEDICINE | 2005年 / 7卷 / 01期

关键词：

hemochromatosis; HFE; diagnosis;

D O I：

10.1097/01.GIM.0000151153.21369.63

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: A 6-year survey of HFE gene test was conducted to evaluate its helpfulness for hereditary hemochromatosis diagnosis. Methods: We analyzed C282Y, H63D, and S65C mutations on 3525 individuals. Results: The test produced 89.7% and 30% of positive results for individuals clinically diagnosed hemochromatosis before HFE gene-test availability and those prospectively tested because of elevated serum iron parameter and/or family history, respectively; among them there were 90.4% and 48.7% of C282Y homozygotes. Conclusions: The HFE gene test confirmed a genetic defect that may lead to iron loading in individuals when iron parameter values, especially for the C282Y/C282Y, were still low as well as for genotypes usually associated with low expressivity and penetrance (C282Y/H63D, H63D/H63D). This gene-test should allow a biochemical follow-up of patients carrying a disease-related genotype.

引用

页码：68 / 73

页数：6

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