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{{DiseaseDisorder infobox | |||
| Name = Haemophilia B | |||
| ICD10 = {{ICD10|D|67||d|65}} | |||
| ICD9 = {{ICD9|286.1}} | |||
| ICDO = | |||
| Image = | |||
| Caption = | |||
| OMIM = 306900 | |||
| MedlinePlus = 000539 | |||
| DiseasesDB = 5561 | |||
| MeshID = D002836 | |||
}} | |||
{{Search infobox}} | |||
'''For patient information click [[{{PAGENAME}} (patient information)|here]]''' | |||
{{CMG}} | |||
{{SK}} Haemophilia B; hæmophilia B; haemophilia type B; hereditary factor IX deficiency; christmas disease | |||
==Overview== | |||
'''Hemophilia B''' is a [[coagulation|blood clotting]] disorder caused by a [[mutation]] of the [[Factor IX]] [[gene]]. 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.<ref>{{WhoNamedIt|synd|2321|Christmas' disease}}</ref> In addition, the first report of its identification was published in the Christmas edition of the [[British Medical Journal]].<ref>Biggs RA, Douglas AS, MacFarlane RG, Dacie JV, Pittney WR, Merskey C, O'Brien JR. ''Christmas disease: a condition previously mistaken for haemophilia.'' [[British Medical Journal|Br Med J]] 1952;2:1378-1382. PMID 12997790.</ref> | |||
==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 ([[hemarthrosis|haemarthrosis]]) or muscles. | |||
===Genetics=== | |||
The factor IX gene is located on the [[X chromosome]] (Xq27.1-q27.2). It is inherited [[X-linked]] recessive, which explains why - as in haemophilia A - mostly males are generally affected. | |||
==Treatment== | |||
Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. | |||
==References== | |||
{{reflist|2}} | |||
==Related Chapters== | |||
*[[Haemophilia]] | |||
*[[Haemophilia A]] | |||
*[[Haemophilia C]] | |||
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[[es:Hemofilia B]] | |||
[[pt:Hemofilia B]] | |||
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Revision as of 16:55, 3 June 2016
Template:DiseaseDisorder infobox Template:Search infobox
For patient information click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Haemophilia B; hæmophilia B; haemophilia type B; hereditary factor IX deficiency; christmas disease
Overview
Hemophilia B is a blood clotting disorder caused by a mutation of the Factor IX gene. 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]
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.
Genetics
The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is inherited X-linked recessive, which explains why - as in haemophilia A - mostly males are generally affected.
Treatment
Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX.
References
- ↑ Template:WhoNamedIt
- ↑ Biggs RA, Douglas AS, MacFarlane RG, Dacie JV, Pittney WR, Merskey C, O'Brien JR. Christmas disease: a condition previously mistaken for haemophilia. Br Med J 1952;2:1378-1382. PMID 12997790.