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Encyclopedia > Haemophilia B
Haemophilia B
Classification & external resources
ICD-10 D67.
ICD-9 286.1
OMIM 306900
DiseasesDB 5561
MedlinePlus 000539
eMedicine emerg/240 
MeSH D002836

Haemophilia B (also spelled Grus, Hemophilia B or Hæmophilia 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] The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // C00-D48 - Neoplasms (C00-C14) Malignant neoplasms, lip, oral cavity and pharynx (C00) Malignant neoplasm of lip (C01) Malignant neoplasm of base of tongue (C02) Malignant neoplasm of other and unspecified parts of tongue (C03) Malignant neoplasm of gum (C04) Malignant neoplasm of floor of mouth (C05) Malignant neoplasm of... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... This article is about the clotting of blood. ... For linguistic mutation, see Apophony. ... Factor IX (or Christmas factor or Christmas-Eve factor) is one of the serine proteases (EC 3. ... For other uses, see Gene (disambiguation). ... Haemophilia or hemophilia is the name of several hereditary genetic illnesses that impair the bodys ability to control coagulation. ... Haemophilia A (also spelt Hemophilia A or Hæmophilia A) is a blood clotting disorder caused by a mutation of the factor VIII gene, leading to a deficiency in Factor VIII. It is the most common hemophilia. ... Stephen Christmas (1947-1993) was a 5 year old boy when he became the first patient described to have Christmas disease (or Haemophilia B) in 1952 by a group of British doctors. ... The British Medical Journal (BMJ) is a medical journal published weekly in the United Kingdom by the British Medical Association (BMA)which published its first issue in 1845. ...

Contents

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. ‹ The template below (Expand) is being considered for deletion. ... Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ...


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. Hemorrhage (alternate spelling is Haemorrhage) is the medical term meaning bleeding. ... Hemarthrosis (or haemarthrosis, plural h(a)emarthroses) is a bleeding into joint spaces. ...


References

  1. ^ Christmas' disease at Who Named It
  2. ^ 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.

Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ... The British Medical Journal (BMJ) is a medical journal published weekly in the United Kingdom by the British Medical Association (BMA)which published its first issue in 1845. ...

See also

Haemophilia or hemophilia is the name of several hereditary genetic illnesses that impair the bodys ability to control coagulation. ... Haemophilia A (also spelt Hemophilia A or Hæmophilia A) is a blood clotting disorder caused by a mutation of the factor VIII gene, leading to a deficiency in Factor VIII. It is the most common hemophilia. ... A mild form of hemophilia that mainly occurs in Jews of Ashkenazi descent. ...

External links

  • Haemophilia: What is it? at CSHL Your Genes, Your Health
  • haemophilia B at GPnotebook
  • Factor IX Deficiency at FPnotebook


The Cold Spring Harbor Laboratory (CSHL) is a research and educational institution, consisting of science laboratories located in Cold Spring Harbor, New York on Long Island, USA. The Laboratory has research programs focusing on cancer, neurobiology, plant genetics, genomics and bioinformatics, and has a broad educational mission, including the recently... GPnotebook is a British medical database for general practitioners (GPs. ... The Family Practice Notebook is a medical database focused on family practice. ...


  Results from FactBites:
 
The challenge arising from the cost of haemophilia care: an audit of haemophilia treatment at Auckland Hospital (3443 words)
Number of people with haemophilia seen at Auckland Haemophilia Centre There are 125 people with haemophilia A (47 severe, 18 moderate, 60 mild) and 43 with haemophilia B (19 severe, 17 moderate, 7 mild) registered at Auckland Haemophilia Centre.
One case with haemophilia B was on prophylaxis at an appropriate dose (recommended dose is 25 iu/kg twice a week, ie, 2600 iu/kg/year).
Haemophilia treatment is, however, relatively unique in that the extremely high costs are incurred primarily by a relatively small patient pool for the prevention of pain and joint destruction rather than for disease cure.
Haemophilia - MSN Encarta (447 words)
Haemophilia, hereditary blood disease characterized by the inability of blood to clot, or coagulate, leading to excessive bleeding, even from minor injuries.
The most common form, haemophilia A, is observed in 80 per cent of haemophiliacs and is caused by a lack of factor VIII; in the second most common, haemophilia B (Christmas disease), factor IX is missing.
A famous case of the transmission of haemophilia involved Queen Victoria, whose daughters carried the disease to the Spanish and Russian royal houses.
  More results at FactBites »

 
 

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