19
Views
1
CrossRef citations to date
0
Altmetric
Haematology

Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis

, , , , , , , , & show all
Pages 401-406 | Received 18 Feb 2007, Accepted 17 Jun 2007, Published online: 06 Jul 2009

References

  • Walsh P N. Haemostasis and Thrombosis: Basic Principles and Clinical Practice4th ed. Lippincott Williams and Wilkins, Philadelphia 2001, Chapter 11, Factor XI
  • Morrissey J H. Haemostasis and Thrombosis: Basic Principles and Clinical Practice4th ed. Lippincott Williams and Wilkins, Philadelphia 2001, Chapter 5, Tissue factor and factor VII initiation of coagulation
  • Walsh P N. Roles of factor XI, platelets and tissue factor-initiated blood coagulation. J Thromb Haemost 2003; 1: 2081–2086
  • Butenas S, Dee J D, Mann K G. The function of factor XI in tissue factor-initiated thrombin generation. J Thromb Haemost 2003; 1: 2103–2111
  • Bolton-Maggs P H. Factor XI deficiency. Bailliere's Clin Haem 1996; 9: 355–368
  • Peretz H, Mulai A, Usher S, et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient middle eastern origin and another of more recent European origin. Blood 1997; 90: 2654–2659
  • Zivelin A, Bauduer F, Ducout L, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002; 99: 2448–2454
  • Quelin F, Trossaert M, Sigaud M, et al. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations including an ancient Q88X mutation. J Thromb Haemost 2004; 2: 71–76
  • Bolton-Maggs P HB, Peretz H, Butler R, et al. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. J Thromb Haemost 2004; 2: 918–924
  • Mitchell M, Mountford R, Butler R, et al. Spectrum of Factor XI (F11) mutations in the UK population – 116 index cases and 140 mutations. Hum Mutat 2006; 27: 829–835
  • Dossenbach-Glaninger A, Hopmeier P. Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. Blood Coagul Fibrinolysis 2005; 16: 231–238
  • Saunders R E, O'Connell N M, Lee C, et al. Factor XI deficiency database: an interactive web database of mutations, phenotypes and structural analysis tools. Hum Mutat 2005; 26: 192–198
  • Bolton-Maggs P HB, Patterson D A, Wensley R T, et al. Definition of the bleeding tendency in factor XI-deficient kindreds – a clinical and laboratory study. Thromb Haemost 1995; 73: 194–202
  • Brenner B, Laor A, Lupo H, Zivelin A, Lanir N, Seligsohn U. Bleeding predictors in factor-XI-deficient patients. Blood Coag Fibrinol 1997; 8: 511–515
  • Ghosh N, Marotta P J, McAlister V C. Correction of factor XI deficiency by liver transplantation. N Engl J Med 2005; 352: 2357–2358
  • Rangarajan S, Moore G, Sunner T, et al. Acquired factor XI deficiency associated with chronic hepatitis C in patients with inherited bleeding disorders. Blood 2005; 106, (Abstr 1778)
  • Reece E A, Clyne L P, Romero R, et al. Spontaneous factor XI inhibitors: seven additional cases and a review of the literature. Arch Intern Med 1984; 144: 525–529
  • Clinical and Laboratories Standards Institute (CLSI). Determination of Coagulant Factor Activities: Approved Guideline1st ed. H48-A. CLSI, Wayne, PA 1997, http://www.clsi.org, accessed June 2007
  • Mitchell M, Dai L, Savidge G, et al. An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients. Blood 2004; 104: 2394–2396
  • Hill M, McLeod F, Franks H, et al. Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. Br J Haematol 2005; 129: 825–829
  • Asakai R, Davie E W, Ratnoff O D, et al. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci 1989; 86: 7667–7671
  • Favaloro E J, Soltani S, McDonald J, et al. Cross-laboratory audit of normal reference ranges and assessment of ABO blood group, gender and age on detected levels of plasma coagulation factors. Blood Coagul Fibrinolysis 2005; 16: 597–605
  • Bolton-Maggs P HB, Perry D J, Chalmers E A, et al. The rare coagulation disorders- review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004; 10: 593–628
  • Mitchell M, Cutler J, Thompson S, et al. Heterozygous factor XI deficiency associated with three novel mutations. Br J Haematol 1999; 107: 763–765
  • Ho D H, Baglia F A, Walsh P N. Factor XI binding to activated platelets is mediated by residues R(250), K(255), F(260) and Q(263) within the apple 3 domain. Biochemistry 2000; 39: 316–323
  • Sunyaev S, Ramensky V, Koch I, et al. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591–597
  • Fujikawa K, Chung D W, Hendrickson L E, et al. Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry 1986; 25: 2417–2424

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.