eMedicine Specialties > Pediatrics: General Medicine > Hematology

Hemophilia C: Differential Diagnoses & Workup

Author: Prasad Mathew, MB, BS, DCH, Director, Hemostasis and Hematology Program, Professor of Pediatrics, University of New Mexico
Coauthor(s): Paula H B Bolton-Maggs, DM, FRCP, FRCPCH, FRCPath, Consultant Haematologist, Manchester Royal Infirmary, UK
Contributor Information and Disclosures

Updated: Mar 10, 2009

Differential Diagnoses

Hemophilia A and B
Von Willebrand Disease

Other Problems to Be Considered

Abnormalities in platelet function
Other clotting factor deficiencies
Combined deficiencies of clotting factor
Uncommon coagulopathies

Workup

Laboratory Studies

Laboratory studies for suspected hemophilia C should include the following:

  • CBC count
  • Measurement of factor XI levels
  • Measurement of factor VIII and von Willebrand factor.
  • Prothrombin time (PT), aPTT, and thrombin time (TT): 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.

Other Tests

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

More on Hemophilia C

Overview: Hemophilia C
Differential Diagnoses & Workup: Hemophilia C
Treatment & Medication: Hemophilia C
Follow-up: Hemophilia C
Multimedia: Hemophilia C
References
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References

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  6. Guella I, Solda G, Spena S, Asselta R, Ghiotto R, Tenchini ML. 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].

  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. 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].

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

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  30. Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia. Sep 2006;12(5):490-3. [Medline].

  31. 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].

  32. Seligsohn U. Factor XI deficiency. Thromb Haemost. Jul 1 1993;70(1):68-71. [Medline].

  33. Seligsohn U, Peretz H. Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia. Haemostasis. Mar-Apr 1994;24(2):81-5. [Medline].

  34. Zivelin A, Ogawa T, Bulvik S, Landau M, Toomey JR, Lane J. 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. [Medline].

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Further Reading

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Keywords

hemophilia C, plasma thromboplastin antecedent deficiency, factor XI deficiency, factor XIC, factor XIc, clotting, deficiency of factor XI, clotting activity, blood coagulation, thrombin-activatable fibrinolysis inhibitor, TAFI, bleeding tendency, excessive bleeding, ischemic stroke, von Willebrand disease, menorrhagia, tonsillectomy, massive hemothorax, cerebral hemorrhage, subarachnoid hemorrhage, spinal epidural hematoma, systemic lupus erythematosus, Noonan syndrome

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Contributor Information and Disclosures

Author

Prasad Mathew, MB, BS, DCH, Director, Hemostasis and Hematology Program, Professor of Pediatrics, University of New Mexico
Prasad Mathew, MB, BS, DCH is a member of the following medical societies: American Society of Hematology
Disclosure: Nothing to disclose.

Coauthor(s)

Paula H B Bolton-Maggs, DM, FRCP, FRCPCH, FRCPath, Consultant Haematologist, 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

Medical Editor

Gary R Jones, MD, Associate Medical Director, Clinical Development, Berlex Laboratories
Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Gary D Crouch, MD, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Associate Professor, 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.

CME Editor

Samuel Gross, MD, Professor Emeritus, Department of Pediatrics, University of Florida; Clinical Professor, Department of Pediatrics, University of North Carolina; Adjunct Professor, Department of Pediatrics, Duke University
Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD, King Fahd Professor of Pediatric Oncology, Department of Oncology, Division of Pediatric Oncology, 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.

 
 
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