Factor XI deficiency--from molecular genetics to clinical management
- PMID: 14567539
- DOI: 10.1097/00001721-200306001-00014
Factor XI deficiency--from molecular genetics to clinical management
Abstract
Factor XI (FXI) deficiency is a rare bleeding disorder, but is known to occur more frequently in a number of well-defined populations. FXI deficiency is most notable for its variable clinical phenotype. The FXI gene is located at the distal end of the long arm of chromosome 4 and encodes a 607 amino acid mature protein, which is a zymogen for a serine protease. Although the serine protease domain is similar to that of many other coagulation factors, the heavy chain differs in that it contains four tandem Apple domains. FXI is also unique in that it exists as a homodimer, with this dimerization appearing essential for normal function. A total of 39 different FXI mutations have been identified to date, affecting both the catalytic and Apple domains. This article will review the molecular genetics of FXI deficiency with particular focus on the implications of these findings for the clinical management of this condition. The potential utility of alternatives to plasma-derived FXI concentrate, such as recombinant factor VIIa (rFVIIa, NovoSeven) will also be explored.
Similar articles
-
Factor XI deficiency.Semin Hematol. 2004 Jan;41(1 Suppl 1):76-81. doi: 10.1053/j.seminhematol.2003.11.015. Semin Hematol. 2004. PMID: 14872426 Review.
-
Structure and function of factor XI.Blood. 2010 Apr 1;115(13):2569-77. doi: 10.1182/blood-2009-09-199182. Epub 2010 Jan 28. Blood. 2010. PMID: 20110423 Free PMC article. Review.
-
Inhibitors to Factor XI in patients with severe Factor XI deficiency.Semin Hematol. 2006 Jan;43(1 Suppl 1):S10-2. doi: 10.1053/j.seminhematol.2005.11.018. Semin Hematol. 2006. PMID: 16427373 Review.
-
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency.FEBS J. 2007 Dec;274(23):6128-38. doi: 10.1111/j.1742-4658.2007.06134.x. Epub 2007 Oct 30. FEBS J. 2007. PMID: 17971173
-
Factor XI apple domains and protein dimerization.J Thromb Haemost. 2003 Nov;1(11):2340-7. doi: 10.1046/j.1538-7836.2003.00418.x. J Thromb Haemost. 2003. PMID: 14629467
Cited by
-
Successful use of recombinant factor VIIa (NovoSeven) during cardiac surgery in a pediatric patient with congenital factor XI deficiency.Pediatr Cardiol. 2008 Jan;29(1):220-2. doi: 10.1007/s00246-007-9081-3. Epub 2007 Sep 20. Pediatr Cardiol. 2008. PMID: 17885783
-
Uneventful cesarean delivery with administration of factor XI concentrate in a patient with severe factor XI deficiency.Int J Hematol. 2007 Oct;86(3):222-4. doi: 10.1532/IJH97.E0731. Int J Hematol. 2007. PMID: 17988987
-
Recombinant factor VIIa: a review on its clinical use.Int J Hematol. 2006 Feb;83(2):126-38. doi: 10.1532/IJH97.E0517. Int J Hematol. 2006. PMID: 16513530 Review.
-
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.Blood Transfus. 2018 Jan;16(1):105-113. doi: 10.2450/2016.0098-16. Epub 2016 Oct 4. Blood Transfus. 2018. PMID: 27723456 Free PMC article. Clinical Trial.
-
Associations between coagulation factor XII, coagulation factor XI, and stability of venous thromboembolism: A case-control study.World J Clin Cases. 2022 Mar 26;10(9):2700-2709. doi: 10.12998/wjcc.v10.i9.2700. World J Clin Cases. 2022. PMID: 35434115 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
