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Hemophilia B

  • Hoda Motlagh
  • Behnaz Pezeshkpoor
  • Akbar Dorgalaleh
Chapter

Abstract

Hemophilia B or Christmas disease is an X-linked recessive bleeding disorder with a prevalence of ~1 in 30,000 males worldwide that is clearly less common than hemophilia A. Patients with hemophilia B suffer from recurrent joint bleeds, ecchymosis, epistaxis, and post-dental extraction bleeding. Nevertheless women who are carriers of this abnormality are asymptomatic. Timely diagnosis of disorder is made based on family history, clinical manifestations, and appropriate laboratory studies. Replacement therapies with intravenous injection of plasma-derived factor IX (FIX) and recombinant FIX (rFIX) are current therapeutic choices that have significantly improved life expectancy and quality of life in these patients; but inhibitor formation occurring in ~1% of patients remains as a challenge of replacement therapy that can cause infused FIX concentrate to be less efficient. Gene therapy is the only definitive curative option, but some time will pass before it becomes available as a routine treatment choice.

Keywords

Hemophilia B Factor IX deficiency Factor IX Christmas disease Gene therapy 

Notes

Acknowledgment

We appreciate Professor Edward Tuddenham for his valuable comments that significantly improved the quality of this chapter.

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Hoda Motlagh
    • 1
  • Behnaz Pezeshkpoor
    • 2
  • Akbar Dorgalaleh
    • 1
  1. 1.Department of Hematology and Blood TransfusionSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  2. 2.Institute of Experimental Hematology and Transfusion Medicine, University of BonnBonnGermany

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