Haemophilia B: Christmas disease.
Haemophilia B is an inherited bleeding disorder associated with a deficiency of coagulation factor IX. The hallmark of the severe phenotype is recurrent and spontaneous bleeding into joints, which can lead to joint deformity and arthritis at an early age. Recombinant factor IX is now increasingly regarded as the treatment of choice because it does not transmit human pathogens. All patients in the UK now receive this product exclusively. Conventional treatment now consists of the administration of recombinant factor IX concentrate on a prophylactic basis to prevent bleeds and, hence, minimise disability in the long term. Trials of gene therapy are also underway, but these are in the very early stages and will not be a realistic option for at least another 20 years.
Giangrande
Paul
P
Oxford Haemophilia Centre and Thrombosis Unit, Churchill Hospital,OX3 7LJ, UK. paul.giangrande@ndm.ox.ac.uk
D000933:Antifibrinolytic Agents / Q000191:economics / Q000627:therapeutic use; D001323:Autoantibodies / Q000097:blood; D002986:Clinical Trials as Topic; D003906:Developing Countries / Q000191:economics; D005164:Factor IX / Q000191:economics / Q000235:genetics / Q000627:therapeutic use*; D005169:Factor VIII / Q000276:immunology; D015942:Factor VIIa / Q000627:therapeutic use; D005544:Forecasting; D015316:Genetic Therapy; D006395:Hemarthrosis / Q000517:prevention & control; D002836:Hemophilia B / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics / Q000276:immunology; D006801:Humans; D017410:Practice Guidelines as Topic; D011292:Premedication; D011994:Recombinant Proteins / Q000191:economics / Q000627:therapeutic use; D014148:Tranexamic Acid / Q000627:therapeutic use; D006113:United Kingdom / Q000453:epidemiology
D000933:Antifibrinolytic Agents; D001323:Autoantibodies; D011994:Recombinant Proteins; D014148:Tranexamic Acid; D005169:Factor VIII; D005164:Factor IX; D015942:Factor VIIa