Factor XI deficiency in humans

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)84-87
Number of pages4
JournalJournal of Thrombosis and Haemostasis
Volume7
Issue numberSUPPL. 1
DOIs
StatePublished - 2009

Keywords

  • Coagulation
  • Factor XI
  • Factor XI deficiency
  • Jews
  • Mutations

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