- Haemophilia B
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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.[1] In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.[2]
Contents
Treatment
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.
Genetics
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.
Pathophysiology
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
A study published in 2009 identified the blood disease affecting the Royal Families of Great Britain, Germany, Russia and Spain as haemophilia B on the basis of genetic markers.[3][4]
See also
References
- ^ 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.
External links
- GeneReviews/NCBI/NIH/UW entry on Hemophilia B
- Hemophilia: What is it? at CSHL Your Genes, Your Health
- hemophilia B at GPnotebook
Sex linkage: X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiencyHematologic Endocrine Metabolic amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome
dyslipidemia: Adrenoleukodystrophy
carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb
lipid storage disorder: Fabry's disease
mucopolysaccharidosis: Hunter syndrome
purine-pyrimidine metabolism: Lesch–Nyhan syndrome
mineral: Menkes disease/Occipital horn syndromeNervous system X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome
eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia
other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2Skin and related tissue Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·
X-linked ichthyosis · X-linked endothelial corneal dystrophyNeuromuscular Urologic Bone/tooth No primary system Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndromeX-linked dominant X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1Categories:
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