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
收藏
页码：68 / 73
页数：6
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