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Hemophilia C Workup

  • Author: Paula H B Bolton-Maggs, DM, FRCPath, FRCP; Chief Editor: Robert J Arceci, MD, PhD  more...
 
Updated: Oct 13, 2015
 

Approach Considerations

Laboratory studies

Laboratory studies for suspected hemophilia C should include the following:

  • Complete blood count (CBC)
  • Measurement of factor XI levels
  • Measurement of factor VIII and von Willebrand factor.
  • Prothrombin time (PT), aPTT, and thrombin time (TT) (usually performed before the measurement of factors)

With regard to the last item, the aPTT is usually prolonged in factor XI deficiency (but depends on the sensitivity of the reagent and test system--partial deficiency can be missed), whereas the PT and TT are normal.

A specific assay for factor XI activity is necessary to confirm the diagnosis. Assays of other clotting factors and platelet function may be needed to exclude a combined hereditary deficiency of factor XI and other factors.

Imaging studies

No imaging studies are necessary in diagnosing factor XI deficiency. However, imaging studies may be obtained to evaluate the extent of bleeding in the management of bleeding at any site.

Genetic analysis

Genetic analysis for the mutation in factor XI is helpful in determining which mutation caused the deficiency.

 
 
Contributor Information and Disclosures
Author

Paula H B Bolton-Maggs, DM, FRCPath, FRCP Consultant Hematologist, Medical Director, Serious Hazards of Transfusion, Haemovigilance Scheme for the UK

Paula H B Bolton-Maggs, DM, FRCPath, FRCP is a member of the following medical societies: American Society of Hematology, International Society on Thrombosis and Haemostasis

Disclosure: Received honoraria from BPL for speaking and teaching.

Coauthor(s)

Prasad Mathew, MBBS, DCH, FAAP Professor of Pediatrics, Division of Hematology/Oncology, University of New Mexico School of Medicine

Prasad Mathew, MBBS, DCH, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, International Society on Thrombosis and Haemostasis, American Society of Clinical Oncology, National Hemophilia Foundation, Hemophilia and Thrombosis Research Society, International Society of Paediatric Oncology, World Federation of Hemophilia

Disclosure: Received salary from Bayer HC for payment for services rendered.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Gary D Crouch, MD Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD Director, Children’s Center for Cancer and Blood Disorders, Department of Hematology/Oncology, Co-Director of the Ron Matricaria Institute of Molecular Medicine, Phoenix Children’s Hospital; Editor-in-Chief, Pediatric Blood and Cancer; Professor, Department of Child Health, University of Arizona College of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Association for Cancer Research, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

References
  1. Zucker M, Seligsohn U, Salomon O, Wolberg AS. Abnormal plasma clot structure and stability distinguish bleeding risk in patients with severe factor XI deficiency. J Thromb Haemost. 2014 Jul. 12 (7):1121-30. [Medline].

  2. Brenner B, Laor A, Lupo H, Zivelin A, Lanir N, Seligsohn U. Bleeding predictors in factor-XI-deficient patients. Blood Coagul Fibrinolysis. 1997 Nov. 8(8):511-5. [Medline].

  3. Salomon O, Steinberg DM, Koren-Morag N, Tanne D, Seligsohn U. Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. Blood. 2008 Apr 15. 111(8):4113-7. [Medline].

  4. Guella I, Solda G, Spena S, et al. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. Thromb Haemost. 2008 Mar. 99(3):523-30. [Medline].

  5. 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. 1995 Feb. 73(2):194-202. [Medline].

  6. Asakai R, Chung DW, Ratnoff OD, Davie EW. 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 U S A. 1989 Oct. 86(20):7667-71. [Medline]. [Full Text].

  7. Gomez K, Bolton-Maggs P. Factor XI deficiency. Haemophilia. 2008 Nov. 14(6):1183-9. [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. 2004 Jun. 2(6):918-24. [Medline].

  9. Bauduer F, Dupreuilh F, Ducout L, Marti B. Factor XI deficiency in the French Basque Country. Haemophilia. 1999 May. 5(3):187-90. [Medline].

  10. Peyvandi F, Di Michele D, Bolton-Maggs PH, Lee CA, Tripodi A, Srivastava A. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost. 2012 Sep. 10(9):1938-43. [Medline].

  11. Batty P, Honke A, Bowles L, et al. Ongoing risk of thrombosis with factor XI concentrate: 5 years experience in two centres. Haemophilia. 2015 Jul. 21 (4):490-5. [Medline].

  12. Bauduer F, de Raucourt E, Boyer-Neumann C, et al. Factor XI replacement for inherited factor XI deficiency in routine clinical practice: results of the HEMOLEVEN prospective 3-year postmarketing study. Haemophilia. 2015 Jul. 21 (4):481-9. [Medline].

 
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