Factor XI deficiency in humans

被引：165

作者：

Seligsohn, U. ^{[1
,2
]}

机构：

[1] Chaim Sheba Med Ctr, Amalia Biron Res Inst Thrombosis & Hemostasis, IL-52621 Tel Hashomer, Israel

[2] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

来源：

JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2009年 / 7卷

关键词：

coagulation; factor XI; factor XI deficiency; Jews; mutations; THROMBOPLASTIN ANTECEDENT DEFICIENCY; COAGULATION-FACTOR-XI; ASHKENAZI JEWS; BLOOD-COAGULATION; REPLACEMENT THERAPY; PLASMA REPLACEMENT; PTA DEFICIENCY; MUTATIONS; ACTIVATION; SURGERY;

D O I：

10.1111/j.1538-7836.2009.03395.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Factor XI (FXI) deficiency is an autosomal recessive injury-related bleeding tendency, which is common in Jews particularly of Ashkenazi origin. To date, 152 mutations in the FXI gene have been reported with four exhibiting founder effects in specific populations, Glu117stop in Ashkenazi and Iraqi Jews and Arabs, Phe283Leu in Ashkenazi Jews, Cys38Arg in Basques, and Cys128stop in the United Kingdom. Severe FXI deficiency does not confer protection against acute myocardial infarction, but is associated with a reduced incidence of ischemic stroke. Inhibitors to FXI develop in one-third of patients with very severe FXI deficiency following exposure to blood products. Therapy for prevention of bleeding during surgery in patients with severe FXI deficiency consists of plasma, factor XI concentrates, fibrin glue and antifibrinolytic agents. In patients with an inhibitor to FXI, recombinant factor VIIa is useful.

引用

页码：84 / 87

页数：4

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