Hemophilia C Workup

  • Author: Paula H B Bolton-Maggs, DM, FRCP, FRCPCH, FRCPath; Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Sep 15, 2011
 

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.

Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Paula H B Bolton-Maggs, DM, FRCP, FRCPCH, FRCPath  Consultant Hematologist, Department of Clinical Hematology, Manchester Royal Infirmary, UK

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

Disclosure: no financial interest None None

Coauthor(s)

Prasad Mathew, MBBS, DCh  Director, Hemostasis and Hematology Program, Professor of Clinical Pediatrics, University of New Mexico School of Medicine

Prasad Mathew, MBBS, DCh is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

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 and American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

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

Disclosure: Nothing to disclose.

References

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

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

  3. Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, 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. Mar 2008;99(3):523-30. [Medline].

  4. 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].

  5. 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. Oct 1989;86(20):7667-71. [Medline]. [Full Text].

  6. Gomez K, Bolton-Maggs P. Factor XI deficiency. Haemophilia. Nov 2008;14(6):1183-9. [Medline].

  7. Bolton-Maggs PH, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L, 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. [Medline].

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

  9. Aledort LM, Forster A, Maksoud J, et al. BPL factor XI concentrate: clinical experience in the USA. Haemophilia. 1997;3:59-62.

  10. Gitel SN, Varon D, Schulman S, Martinowitz U. Clinical experiences of a FXI concentrate: possible side effects. Throm Haemost. 1991;65:1157.

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.