Standard Article

Haemophilias

  1. Johannes Walter1,
  2. Katherine High2

Published Online: 19 APR 2001

DOI: 10.1038/npg.els.0001878

eLS

eLS

How to Cite

Walter, J. and High, K. 2001. Haemophilias. eLS. .

Author Information

  1. 1

    Kaiser Franz Josef Spital, Vienna, Austria

  2. 2

    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Publication History

  1. Published Online: 19 APR 2001

Abstract

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