Document Detail

Factor XI deficiency in humans.
MedLine Citation:
PMID:  19630775     Owner:  NLM     Status:  MEDLINE    
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.
U Seligsohn
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of thrombosis and haemostasis : JTH     Volume:  7 Suppl 1     ISSN:  1538-7836     ISO Abbreviation:  J. Thromb. Haemost.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-07-27     Completed Date:  2009-12-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101170508     Medline TA:  J Thromb Haemost     Country:  England    
Other Details:
Languages:  eng     Pagination:  84-7     Citation Subset:  IM    
Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel.
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MeSH Terms
Autoantibodies / biosynthesis
Blood Loss, Surgical / prevention & control
Factor XI Deficiency* / complications,  epidemiology,  therapy
Premedication / methods
Reg. No./Substance:

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