Haemophilias

Johannes Walter, Kaiser Franz Josef Spital, Vienna, Austria
Katherine High, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Published online: April 2001

DOI: 10.1038/npg.els.0001878

Haemophilia is a hereditary bleeding disorder caused by a deficiency of one of two plasma clotting factors, factor VIII or factor IX. The clinical symptoms of this X-linked recessive disease vary depending on the level of activity of the affected factor. Patients may be asymptomatic, except in the face of trauma or surgery, or suffer from mild to severe, often spontaneous, haemorrhage.

Keywords: haemophilia; bleeding disorder; clotting factor; mutation; gene therapy

Figure 1. Middle stages of the coagulation cascade. Factors beside the arrows denote the activators in the respective reaction.
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 Further Reading
    book Benz EJ, Shattil SJ, Furie B and Cohen HJ (1991) "Haemophilia". In: Hoffman R, Levine PH and Brettler DB (eds) Hematology, Basic Principles and Practice, pp. 1290–1304. New York: Churchill Livingstone
    Ljung RCR (1998) Can haemophilic arthropathy be prevented? British Journal of Haematology 101: 215–219.
    Ludlam CA (1998) Treatment of haemophilia. British Journal of Haematology 101 (supplement 1): 13–14.
    Miller JM and Miller SK (1993) Vignette of medical history: Queen Victoria and haemophilia. Maryland Medical Journal 42(6): 581–583.
    Walter J and High KA (1997) Gene therapy for the haemophilias. Advances of Veterinary Medicine 40: 119–134.

Related Sub-Topics:

Specific Genetic Disorders
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Article Title: Haemophilias
 
How to Cite close
Walter, Johannes, and High, Katherine(Apr 2001) Haemophilias. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0001878]