関: Christmas disease、factor IX deficiency、hemophilia B

WordNet

the 2nd letter of the Roman alphabet (同)b
the blood group whose red cells carry the B antigen (同)type_B, group B

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/09/02 15:58:46」(JST)

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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]

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, usually only males are affected. 1 in 25,000 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]

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

UpToDate Contents

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1. 血友病の臨床症状および診断 clinical manifestations and diagnosis of hemophilia
2. 血友病の治療 treatment of hemophilia
3. 血友病の遺伝学 genetics of the hemophilias
4. 血友病患者における第VIIIおよび第IX因子阻害物質 factor viii and factor ix inhibitors in patients with hemophilia
5. 出血症状を有する小児に対するアプローチ approach to the child with bleeding symptoms

English Journal

Molecular characterization of 16 hemophilia B families in Aragon, Spain.

Arias-Moreno X, Catalina SS, Rubio R, Aguilar C, Lucía JF.SourceaDepartment of Haematology, Haemophilia Referral Unit in Aragon, University Hospital Miguel Servet, Zaragoza bDepartment of Haematology, Hospital Santa Barbara, Soria, Spain.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2013 Sep;24(6):625-32. doi: 10.1097/MBC.0b013e3283610366.
Molecular characterization of hemophilia B at gene level has become an indispensable tool for a proper genetic counseling in carriers and for a closer surveillance of inhibitor development in several severe forms. Our study was aimed at characterizing the molecular defects in the factor IX (FIX) gen
PMID 23689273

Gene therapy for hemophilia: advancing beyond the first clinical success.

Monahan PE, Gui T.SourceaHarold R. Roberts Comprehensive Hemophilia Diagnostic and Treatment Center bGene Therapy Center cDepartment of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Current opinion in hematology.Curr Opin Hematol.2013 Sep;20(5):410-6. doi: 10.1097/MOH.0b013e328363c1a1.
PURPOSE OF REVIEW: Consistently measurable and persistent expression of circulating clotting factor activity, associated with decreased clinical bleeding, has been achieved for the first time in a hemophilia gene therapy trial. This review examines the successes and limitations of this clinical tria
PMID 23852185

Implementing haemophilia care in Senegal, West Africa.

Diop S, Seck M, Sy-Bah D, Faye BF, Sow-Ndoye A, Gueye YB, Senghor AB, Sall-Fall A, Toure-Fall AO, Dièye TN, Thiam D, Diakhate L.SourceDepartment of Hematology, Universite Cheikh Anta Diop, Dakar, Senegal; Department of Hematology, National Blood Transfusion Center, Dakar, Senegal.
Haemophilia : the official journal of the World Federation of Hemophilia.Haemophilia.2013 Aug 6. doi: 10.1111/hae.12249. [Epub ahead of print]
Despite significant progres on haemophilia care in developed world, this disease remains unknown in many sub-Saharan African countries. The objectives of this article were to report Senegalese experience on the management of haemophilia care through 18 years of follow-up. This cohort study included
PMID 23919355