- Haemophilia B
Haemophilia B Classification and external resources ICD-10 D67 ICD-9 286.1 OMIM 306900 DiseasesDB 5561 MedlinePlus 000539 eMedicine emerg/240 MeSH D002836
Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene, leading to a deficiency of Factor IX. It is the second most common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease after Stephen Christmas, the first patient described with this disease. In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.
Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. Factor IX has a longer half life than factor VIII (Deficient in Haemophilia A) and as such factor IX can be transfused less frequently.
The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why, as in haemophilia A, only males are usually affected. 1 in 50,000 males are affected.
Factor IX deficiency leads to an increased propensity for haemorrhage. This is in response to mild trauma or even spontaneously, such as in joints (haemarthrosis) or muscles.
European Royal Families
- ^ Christmas' disease at Who Named It?
- ^ Biggs R, Douglas AS, MacFarlane RG, Dacie JV, Pitney WR, Merskey C, O'Brien JR (1952). "Christmas disease: a condition previously mistaken for haemophilia". Br Med J 2 (4799): 1378–82. PMC 2022306. PMID 12997790. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2022306.
- ^ Michael Price (8 October 2009). "Case Closed: Famous Royals Suffered From Hemophilia". ScienceNOW Daily News. AAAS. http://sciencenow.sciencemag.org/cgi/content/full/2009/1008/2. Retrieved 9 October 2009.
- ^ Evgeny I. Rogaev et al. (8 October 2009). "Genotype Analysis Identifies the Cause of the "Royal Disease"". Science. http://www.sciencemag.org/cgi/content/abstract/1180660. Retrieved 9 October 2009.
- GeneReviews/NCBI/NIH/UW entry on Hemophilia B
- Hemophilia: What is it? at CSHL Your Genes, Your Health
- hemophilia B at GPnotebook
Pathology: hematology · hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287) Red
Sex linkage: X-linked disorders X-linked recessive Immune Hematologic Endocrine Metabolicmineral: Menkes disease/Occipital horn syndrome Nervous system
X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndromeCharcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2
Skin and related tissue Neuromuscular Urologic Bone/tooth No primary system X-linked dominant
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