Haemophilia B

This article is about the bleeding disorder with factor IX deficiency. For the disorder with factor VIII deficiency, see haemophilia A.
Haemophilia B
Other namesHemophilia B, Christmas disease
This condition is inherited in an X-linked recessive manner.
SpecialtyHaematology
SymptomsEasy bruising[1]
CausesFactor IX deficiency[1]
Diagnostic methodBleeding scores, Coagulation factor assays[2]
TreatmentFactor IX concentrate[1]

Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A).[3]

Haemophilia B was first recognized as a distinct disease entity in 1952.[4] It is also known by the eponym Christmas disease,[1] named after Stephen Christmas, the first patient described with haemophilia B. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.[4][5]

Most individuals who have Hemophilia B and experience symptoms are men.[6] The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with hemophilia.[6] Many women carriers of the disease have no symptoms.[6] However, an estimated 10-25% of women carriers have mild symptoms; in rare cases, women may have moderate or severe symptoms.[6]

  1. ^ a b c d MedlinePlus Encyclopedia: Hemophilia B
  2. ^ Cite error: The named reference konk was invoked but never defined (see the help page).
  3. ^ Kliegman, Robert (2011). Nelson textbook of pediatrics (19th ed.). Philadelphia: Saunders. pp. 1700–1. ISBN 978-1-4377-0755-7.
  4. ^ a b "Haemophilia B (Factor IX Deficiency) information | Patient". Patient. 3 July 2014. Archived from the original on 2024-02-26. Retrieved 2016-04-21.
  5. ^ Biggs, R.; Douglas, A. S.; Macfarlane, R. G.; Dacie, J. V.; Pitney, W. R.; Merskey, C.; O'Brien, J. R. (27 December 1952). "Christmas Disease". BMJ. 2 (4799): 1378–1382. doi:10.1136/bmj.2.4799.1378. PMC 2022306. PMID 12997790.
  6. ^ a b c d "FDA Approves First Gene Therapy to Treat Adults with Hemophilia B". U.S. Food and Drug Administration (FDA). 22 November 2022. Retrieved 22 November 2022. Public Domain This article incorporates text from this source, which is in the public domain.