Haemophilia B: Difference between revisions

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{{DiseaseDisorder infobox
#REDIRECT [[Hemophilia B]]
| Name          = Haemophilia B
| ICD10          = {{ICD10|D|67||d|65}}
| ICD9          = {{ICD9|286.1}}
| ICDO          =
| Image          =
| Caption        =
| OMIM          = 306900
| MedlinePlus    = 000539
| eMedicineSubj  = emerg
| eMedicineTopic = 240
| DiseasesDB    = 5561
| MeshID        = D002836
}}
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{{CMG}}
 
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==Overview==
'''Haemophilia B''' (also spelled '''Hemophilia B''' or '''Hæmophilia 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>
 
==Treatment==
Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX.
 
==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.
 
==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.
 
==References==
<references/>
 
==See also==
*[[Haemophilia]]
*[[Haemophilia A]]
*[[Haemophilia C]]
 
==External links==
*[http://www.ygyh.org/hemo/whatisit.htm Haemophilia: What is it?] at [[Cold Spring Harbor Laboratory|CSHL]] ''Your Genes, Your Health''
*{{GPnotebook|-1529872380|haemophilia B}}
*{{FPnotebook|HEM17|Factor IX Deficiency}}
 
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[[es:Hemofilia B]]
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[[Category:Hematology]]
[[Category:Genetic disorders]]
 
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Latest revision as of 15:45, 19 January 2010

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