eMedicine Specialties > Emergency Medicine > Hematology & Oncology

Hemophilia, Type B: Differential Diagnoses & Workup

Author: Brendan R Furlong, MD, Clinical Chief, Department of Emergency Medicine, Georgetown University Hospital
Coauthor(s): Mary A Furlong, MD, Associate Professor and Program/Residency Director, Department of Pathology, Georgetown University School of Medicine
Contributor Information and Disclosures

Updated: Oct 6, 2008

Differential Diagnoses

Hemophilia, Type A

Other Problems to Be Considered

von Willebrand disease
Vitamin K and other factor deficiencies
Afibrinogenemia/dysfibrinogenemia
Fibrinolytic diseases
Platelet disorders

Workup

Laboratory Studies

  • Never delay indicated coagulation correction pending diagnostic testing.
  • Hemoglobin/hematocrit
    • Assess blood loss.
    • Expect normal range or low values.
  • Prothrombin time (PT)
    • Extrinsic coagulation pathway screen
    • Normal range expected
  • Activated partial thromboplastin time (aPTT)
    • Intrinsic pathway screen
    • Elevated values expected (may be normal range in mild disease)
  • Platelet count
    • Assess bleeding.
    • Expect normal range.
  • Factor IX level
    • Assess percentage activity.
    • Normal range is 50-150%; severe disease less than 1%; moderate disease 1-5%; mild disease greater than 5%.
  • Factor IX inhibitors
    • Assess presence and anamnestic response to factor IX.
    • Expect low titer (0-10 Bethesda U) or high titer (>10 Bethesda U).

Imaging Studies

  • Early and aggressive imaging is indicated after coagulation therapy is initiated, even when suspicion is low for hemorrhage.
  • CT scan
    • Head (noncontrast): Assess for spontaneous or traumatic hemorrhage.
    • Body (with or without intravenous [IV] and/or oral contrast): Assess spontaneous or traumatic hemorrhage as indicated by clinical suspicion and anatomic location.
  • MRI
    • Head and spinal column
    • Further assessment of spontaneous or traumatic hemorrhage
  • Joint x-ray
    • Of limited value in the acute setting of hemarthrosis
    • Chronic degenerative joint disease often present
  • Special studies (as clinically indicated)
    • Angiography
    • Nucleotide bleeding scan

More on Hemophilia, Type B

Overview: Hemophilia, Type B
Differential Diagnoses & Workup: Hemophilia, Type B
Treatment & Medication: Hemophilia, Type B
Follow-up: Hemophilia, Type B
References
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References

  1. Coagulation Factor VII a (Recombinant) [package insert]. Denmark: Novo Nordisk; 2006. [Full Text].

  2. Adamson S, Charlebois T, O'Connell B, Foster W. Viral safety of recombinant factor IX. Semin Hematol. Apr 1998;35(2 Suppl 2):22-7. [Medline].

  3. Bell B, Canty D, Audet M. Hemophilia: an updated review. Pediatr Rev. Aug 1995;16(8):290-8. [Medline].

  4. Bolan CD, Alving BM. Pharmacologic agents in the management of bleeding disorders. Transfusion. Jul-Aug 1990;30(6):541-51. [Medline].

  5. Brettler DB, Levine PH. Clinical manifestations and therapy of inherited coagulation factor deficiencies. In: Hemostasis and Thrombosis: Basic Principles and Clinical Practice, Third Edition. 1994:169-83.

  6. Brinkhous KM, Sigman JL, Read MS, et al. Recombinant human factor IX: replacement therapy, prophylaxis, and pharmacokinetics in canine hemophilia B. Blood. Oct 1 1996;88(7):2603-10. [Medline].

  7. DiMichele D, Neufeld EJ. Hemophilia. A new approach to an old disease. Hematol Oncol Clin North Am. Dec 1998;12(6):1315-44. [Medline].

  8. Dunn AL, Abshire TC. Recent advances in the management of the child who has hemophilia. Hematol Oncol Clin North Am. Dec 2004;18(6):1249-76, viii. [Medline].

  9. Furie B, Limentani SA, Rosenfield CG. A practical guide to the evaluation and treatment of hemophilia. Blood. Jul 1 1994;84(1):3-9. [Medline].

  10. Goldsmith JC. Hemophilia: Current Medical Management. The National Hemophilia Foundation; 1994:1-30.

  11. Ludlam CA. Treatment of haemophilia. Br J Haematol. May 1998;101 Suppl 1:13-4. [Medline].

  12. Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Found. Recommendations concerning prophylaxis. Medical Bulletin #193. 1994;1-3.

  13. Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Found. Recommendations regarding the use of recombinant factor VIII in the treatment of hemophilia A. Medical Bulletin # 232. 1995;1-2.

  14. Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Found. Revised recommendations regarding hepatitis A vaccination in individuals with hemophilia and other congenital bleeding disorders. Medical Advisory # 277. 1997;1-2.

  15. Soucie JM, Evatt B, Jackson D. Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators. Am J Hematol. Dec 1998;59(4):288-94. [Medline].

  16. Thompson A. Recombinant factor IX for the treatment of hemophilia B. Introduction. Semin Hematol. Apr 1998;35(2 Suppl 2):1-3. [Medline].

  17. White G, Shapiro A, Ragni M. Clinical evaluation of recombinant factor IX. Semin Hematol. Apr 1998;35(2 Suppl 2):33-8. [Medline].

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Further Reading

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Keywords

hemophilia type B, hemophilia type B, blood disorder, deficiency of factor IX, factor IX deficiency, dysfunctional factor IX, factor IX inhibitors, hemorrhage, bleeding, bleeding disorder, factor IX activity, plasma coagulation

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Contributor Information and Disclosures

Author

Brendan R Furlong, MD, Clinical Chief, Department of Emergency Medicine, Georgetown University Hospital
Brendan R Furlong, MD is a member of the following medical societies: American College of Emergency Physicians and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

Mary A Furlong, MD, Associate Professor and Program/Residency Director, Department of Pathology, Georgetown University School of Medicine
Mary A Furlong, MD is a member of the following medical societies: United States and Canadian Academy of Pathology
Disclosure: Nothing to disclose.

Medical Editor

William G Gossman, MD, Associate Clinical Professor of Emergency Medicine, Creighton University School of Medicine; Consulting Staff, Department of Emergency Medicine, Creighton University Medical Center
William G Gossman, MD is a member of the following medical societies: American Academy of Emergency Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

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

Managing Editor

Jeffrey L Arnold, MD, FACEP, Chairman, Department of Emergency Medicine, Santa Clara Valley Medical Center
Jeffrey L Arnold, MD, FACEP is a member of the following medical societies: American Academy of Emergency Medicine and American College of Physicians
Disclosure: Nothing to disclose.

CME Editor

John D Halamka, MD, MS, Associate Professor of Medicine, Harvard Medical School, Beth Israel Deaconess Medical Center; Chief Information Officer, CareGroup Healthcare System and Harvard Medical School; Attending Physician, Division of Emergency Medicine, Beth Israel Deaconess Medical Center
John D Halamka, MD, MS is a member of the following medical societies: American College of Emergency Physicians, American Medical Informatics Association, Phi Beta Kappa, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

Chief Editor

Steven C Dronen, MD, FAAEM, Director of Emergency Services, Director of Chest Pain Center, Department of Emergency Medicine, Ft Sanders Sevier Medical Center
Steven C Dronen, MD, FAAEM is a member of the following medical societies: American Academy of Emergency Medicine and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

 
 
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