|
|
Line 1: |
Line 1: |
| {{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
| |
| }}
| |
| {{Search infobox}}
| |
| {{CMG}}
| |
| | |
| {{Editor Help}}
| |
| | |
| ==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}}
| |
| | |
| <!--Navigation boxes--><br clear=all />
| |
| {{Hematology}}
| |
| {{SIB}}
| |
| | |
| | |
| [[es:Hemofilia B]]
| |
| [[pt:Hemofilia B]]
| |
| | |
| [[Category:Hematology]]
| |
| [[Category:Genetic disorders]]
| |
| | |
| {{WikiDoc Help Menu}}
| |
| {{WikiDoc Sources}}
| |