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Haemophilia B

 

Haemophilia B

Haemophilia B
Classification and external resources
Specialty Haematology
ICD-10 D67
ICD-9-CM 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, named 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 1
  • Genetics 2
  • Pathophysiology 3
  • European royal families 4
  • See also 5
  • References 6
  • External links 7

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. One in 20,000–30,000 males are affected.

In 1990, Merlin Crossley showed that two sets of genetic mutations were preventing two key proteins from attaching to the DNA of people with a rare and unusual form of haemophilia B – haemophilia B Leyden – where sufferers experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.[3] This lack of protein attachment to the DNA was thereby turning off the gene that produces clotting factor IX, which prevents excessive bleeding.[4]

In 2013, Merlin Crossley discovered the third and final protein causing haemophilia B Leyden.[5]

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.[6][7]

See also

References

  1. ^ Christmas' disease at Who Named It?
  2. ^ 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.  
  3. ^ http://ghr.nlm.nih.gov/condition/hemophilia
  4. ^ Crossley, M; Brownlee, G. G. (1990). "Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B". Nature 345 (6274): 444–6.  
  5. ^ http://www.biotechlearn.org.nz/news_and_events/news/2013_archive/royal_disease_mystery_solved
  6. ^ Michael Price (8 October 2009). "Case Closed: Famous Royals Suffered From Hemophilia". ScienceNOW Daily News. AAAS. Retrieved 9 October 2009. 
  7. ^ Evgeny I. Rogaev; et al. (8 October 2009). """Genotype Analysis Identifies the Cause of the "Royal Disease. Science. 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
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