Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?

被引：10

作者：

MacLean, RM ^{[1
]}

Feeney, GP ^{[1
]}

Bowley, SJ ^{[1
]}

Bowen, DJ ^{[1
]}

Worwood, M ^{[1
]}

Collins, PW ^{[1
]}

机构：

[1] Univ Wales Coll Med, Dept Haematol, Arthur Bloom Haemophilia Ctr, Cardiff CF4 4XN, S Glam, Wales

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1999年 / 107卷 / 01期

关键词：

factor V Leiden; haemochromatosis; venous thrombosis; activated protein C resistance;

D O I：

10.1046/j.1365-2141.1999.01663.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The involvement in venous thrombosis of the two most; common mutations of the hereditary haemochromatosis gene (HFE C282Y and HFE:H63D) was investigated in 239 patients with objectively proven venous thrombosis. Neither mutation showed an increased prevalence in the cohort (HFE C282Y: 13.0% (95% CI 9.3-17.8) patients, 16.2% (95% CI 14.3-18.2) controls; HFE H63D: 28.3% (95% CI 22.9-34.3) patients, 28.1% (95% CI 25.8-30.6) controls, Neither mutation was increased in patients with factor V Leiden (FVL) compared to those without. However, HFE C282Y was increased among patients who had both FVL and a family history of thrombosis (7/20), compared with those with FVL and no family history (1/22) (relative risk 7.97, 95% CI 1.5-43.1, P = 0.016).

引用

页码：210 / 212

页数：3

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