5. Factor IX Deficiency or Hemophilia B: Clinical Manifestations and Management

  1. Hussain I. Saba MD, PhD Professor of Medicine; Director of Hematology/Hemophilia/Hemostasis & Thrombosis Center; Professor Emeritus3 and
  2. Harold R. Roberts MD Emeritus Professor of Medicine and Pathology4
  1. Raj S. Kasthuri1,
  2. Harold R. Roberts1 and
  3. Paul E. Monahan2

Published Online: 14 FEB 2014

DOI: 10.1002/9781118833391.ch5

Hemostasis and Thrombosis

Hemostasis and Thrombosis

How to Cite

Kasthuri, R. S., Roberts, H. R. and Monahan, P. E. (2014) Factor IX Deficiency or Hemophilia B: Clinical Manifestations and Management, in Hemostasis and Thrombosis (eds H. I. Saba and H. R. Roberts), John Wiley & Sons, Ltd, Oxford, UK. doi: 10.1002/9781118833391.ch5

Editor Information

  1. 3

    USF College of Medicine; Department of Malignant Hematology, Moffitt Cancer Center and Research Institute, Tampa, FL, USA

  2. 4

    Division of Hematology/Oncology, University of North Carolina, Chapel Hill, NC, USA

Author Information

  1. 1

     Department of Medicine, Division of Hematology/Oncology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

  2. 2

     Department of Pediatrics, Division of Hematology/Oncology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

Publication History

  1. Published Online: 14 FEB 2014
  2. Published Print: 20 APR 2014

ISBN Information

Print ISBN: 9780470670507

Online ISBN: 9781118833391

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Keywords:

  • diagnosis of factor IX deficiency;
  • factor IX deficiency;
  • hemophilia B;
  • manifestations of hemophilia B;
  • treatment of factor IX deficiency

Summary

Hemophilia B is an X-linked recessive disease caused by a deficiency in coagulation factor IX. As such, increased susceptibility to bleeding is the primary clinical manifestation of this disease. The disease can range from very severe to mild, based on the extent of factor IX deficiency. In this sense, hemorrhage in hemophilia B is very similar to classic hemophilia (hemophilia A) and the two cannot be distinguished except by using specific assays for factors VIII and IX. Treatment consists of replacement of factor IX sufficient to achieve hemostasis or use of bypassing agents in individuals who have developed a factor IX inhibitor. Prophylactic therapy is increasingly implemented in the pediatric setting but is not universally available. The focus of ongoing research is on improving the pharmacokinetic properties of factor IX products and gene therapy.