Factor XI Deficiency: Multimedia

References

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2. Azzi A, De Santis R, Morfini M, et al. TT virus contaminates first-generation recombinant factor VIII concentrates. Blood. Oct 15 2001;98(8):2571-3. [Medline].

3. Bauduer F, Bendriss P, Freyburger G, et al. Use of desmopressin for prophylaxis of surgical bleeding in factor XI- deficient patients. Acta Haematol. 1998;99(1):52-3. [Medline].

4. Berliner S, Horowitz I, Martinowitz U, et al. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinolysis. Aug 1992;3(4):465-8. [Medline].

5. Bolton-Maggs PH. Factor XI deficiency and its management. World Federation of Hemophilia Monograph;1999:16.

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7. Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG. Definition of the bleeding tendency in factor XI-deficient kindreds--a clinical and laboratory study. Thromb Haemost. Feb 1995;73(2):194-202. [Medline].

8. Bolton-Maggs PH, 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. Jun 2004;2(6):918-24.

9. Bonnar J, Sheppard BL. Treatment of menorrhagia during menstruation: randomised controlled trial of ethamsylate, mefenamic acid, and tranexamic acid. BMJ. Sep 7 1996;313(7057):579-82. [Medline].

10. Castaman G, Ruggeri M, Rodeghiero F. Clinical usefulness of desmopressin for prevention of surgical bleeding in patients with symptomatic heterozygous factor XI deficiency. Br J Haematol. Jul 1996;94(1):168-70. [Medline].

11. Clarkson K, Rosenfeld B, Fair J, et al. Factor XI deficiency acquired by liver transplantation. Ann Intern Med. Dec 1 1991;115(11):877-9. [Medline].

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14. Dzik WH, Arkin CF, Jenkins RL. Transfer of congenital factor XI deficiency from a donor to a recipient by liver transplantation. N Engl J Med. May 7 1987;316(19):1217-8. [Medline].

15. Hancock JF, Wieland K, Pugh RE, et al. A molecular genetic study of factor XI deficiency. Blood. May 1 1991;77(9):1942-8. [Medline].

16. Hedner U, Ginsburg D, Lusher JM, High KA. Congenital Hemorrhagic Disorders: New Insights into the Pathophysiology and Treatment of Hemophilia. Hematology (Am Soc Hematol Educ Program). 2000;241-265. [Medline].

17. Kadir RA, Economides DL, Lee CA. Factor XI deficiency in women. Am J Hematol. Jan 1999;60(1):48-54. [Medline].

18. Kravtsov DV, Monahan PE, Gailani D, et al. A classification system for cross-reactive material-negative factor XI deficiency. Blood. Jun 15 2005;105(12):4671-3.

19. Martincic D, Zimmerman SA, Ware RE, et al. Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting. Blood. Nov 1 1998;92(9):3309-17. [Medline].

20. MediView Express. Recombinant therapy enhances safety andquality of life for hemophilia patients. Paper presented at: 53rd Annual Meeting of the National Hemophilia Foundation. November 16, 2001;Nashville, Tennessee.

21. 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. Oct 1 1997;90(7):2654-9. [Medline].

22. Rigas B, Hasan I, Rehman R, et al. Effect on treatment outcome of coinfection with SEN viruses in patients with hepatitis C. Lancet. Dec 8 2001;358(9297):1961-2. [Medline].

23. Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med. 1953;82:171-4.

24. Salomon O, Seligsohn U. New observations on factor XI deficiency. Haemophilia. Oct 2004;10 Suppl 4:184-7.

25. Salomon O, Zivelin A, Livnat T, et al. Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. Blood. Jun 15 2003;101(12):4783-8. [Medline].

26. Saunders RE, O''Connell NM, Lee CA, et al. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. Hum Mutat. Sep 2005;26(3):192-8.

27. Seligsohn U. The activated partial thromboplastin time and factor XI deficiency. Ann Intern Med. Nov 1986;105(5):805. [Medline].

28. Seligsohn U, White GC. Inherited deficiencies of coagulation factors II, V, VII, XI, and XIII and the combined deficiencies of factors V and VIII and of the vitamin K-dependent factors. In: Beutler E, Lichtman MA,Coller BS, et al, eds. Williams Hematology. McGraw-Hill;2001:1617-38.

29. Siegel JE, Kouides PA. Menorrhagia from a haematologist''s point of view. Part II: management. Haemophilia. May 2002;8(3):339-47. [Medline].

30. Sun MF, Baglia FA, Ho D, et al. Defective binding of factor XI-N248 to activated human platelets. Blood. Jul 1 2001;98(1):125-9. [Medline].

31. Walsh P. Factor XI. In: Colman RW, Hirsh J, Marder VJ, et al, eds. Hemostasis and Thrombosis: Basic Principles and Clinical Practice. 4th ed. Lippincott Williams & Wilkins;1987.

32. 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. Apr 1 2002;99(7):2448-54. [Medline].

33. Zivelin A, Ogawa T, Bulvik S, et al. Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. J Thromb Haemost. Oct 2004;2(10):1782-9.

34. Saunders RE, Shiltagh N, Gomez K, et al. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. Thromb Haemost. Aug 2009;102(2):287-301. [Medline].

35. Franchini M, Manzato F, Salvagno GL, Montagnana M, Lippi G. The use of desmopressin in congenital factor XI deficiency: a systematic review. Ann Hematol. Jul 17 2009;epub ahead of print. [Medline].

36. Kravtsov DV, Matafonov A, Tucker EI, et al. Factor XI contributes to thrombin generation in the absence of factor XII. Blood. Jul 9 2009;114(2):452-8. [Medline].

37. Seligsohn U. Factor XI deficiency in humans. J Thromb Haemost. Jul 2009;7 suppl 1:84-7. [Medline].

Further Reading

Keywords

factor XI deficiency, FXI deficiency, hemophilia C, plasma thromboplastin antecedent deficiency, Rosenthal's syndrome, Rosenthal syndrome, PTA deficiency, bleeding disorder

Contributor Information and Disclosures

Author

Jamie E Siegel, MD, Director, Cardeza Foundation Hemophilia Treatment Center, Thomas Jefferson University
Jamie E Siegel, MD is a member of the following medical societies: American College of Physicians, American Society for Clinical Pathology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Medical Editor

Paul Schick, MD, Emeritus Professor, Department of Internal Medicine, Thomas Jefferson University Medical College; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital, Wynnewood, PA
Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Society of Hematology, International Society on Thrombosis and Haemostasis, and New York Academy of Sciences
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Ronald A Sacher, MB, BCh, MD, FRCPC, Professor, Internal Medicine and Pathology, Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center
Ronald A Sacher, MB, BCh, MD, FRCPC is a member of the following medical societies: American Society of Hematology
Disclosure: Glaxo Smith Kline Honoraria Speaking and teaching; Talecris Honoraria Board membership

CME Editor

Rebecca J Schmidt, DO, FACP, FASN, Professor of Medicine, Section Chief, Department of Medicine, Section of Nephrology, West Virginia University School of Medicine
Rebecca J Schmidt, DO, FACP, FASN is a member of the following medical societies: American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Society of Nephrology, International Society of Nephrology, National Kidney Foundation, Renal Physicians Association, and West Virginia State Medical Association
Disclosure: Abbott Grant/research funds Speaking and teaching; Genzyme Honoraria Consulting; Amgen Honoraria Speaking and teaching; Ortho Biotech Honoraria Speaking and teaching

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Thomas Jefferson University
Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.