Clinical Review

Diagnosis and management of haemophilia

BMJ 2012; 344 doi: http://dx.doi.org/10.1136/bmj.e2707 (Published 02 May 2012) Cite this as: BMJ 2012;344:e2707
  1. Karin Fijnvandraat, paediatric haematologist12,
  2. Marjon H Cnossen, paediatric haematologist3,
  3. Frank W G Leebeek, haematologist4,
  4. Marjolein Peters, paediatric haematologist12
  1. 1Amsterdam Haemophilia Treatment Centre, Academic Medical Center, 1100 DD Amsterdam, Netherlands
  2. 2Department of Paediatric Haematology, Emma Children’s Hospital, Academic Medical Center, Amsterdam, Netherlands
  3. 3Department of Paediatric Haematology and Oncology, Erasmus Medical Center, Sophia Children’s Hospital, Rotterdam, Netherlands
  4. 4Department of Haematology, Erasmus Medical Center, Rotterdam, Netherlands
  1. Correspondence to: K Fijnvandraat c.j.fijnvandraat{at}amc.nl

Summary points

  • In patients with major (head) trauma or major spontaneous bleeding, always give coagulation factor concentrates without delay, before diagnostic imaging or other interventions

  • Prophylactic administration of factor VIII or factor IX concentrate is the standard of care for patients with severe haemophilia in countries where this is economically feasible

  • Avoid drugs that affect haemostasis, such as platelet inhibitors and anticoagulants because they aggravate bleeding symptoms

  • A safety amulet that makes patients with haemophilia easily recognisable may be life saving and is recommended for all patients

  • Advise female relatives of patients with haemophilia to seek genetic counselling because they may be carriers

  • Female carriers may have reduced plasma concentrations of factor VIII or factor IX, similar to those seen in patients with mild haemophilia and may also have bleeding symptoms

Haemophilia, which means love (“philia”) of blood (“haemo”), is associated with prolonged and excessive bleeding. It is a hereditary disorder of haemostasis that occurs in one in 5000 men (prevalence of 10 in 100 000 people) and is caused by a deficiency of clotting factor VIII (in haemophilia A) or factor IX (in haemophilia B) as a result of defects in the F8 and F9 genes. Basic knowledge of the inheritance and management of haemophilia is essential for a broad group of healthcare workers, because severe or even life threatening bleeding can be prevented if the condition is adequately diagnosed and promptly treated. Furthermore, in women carriers who have an affected fetus, special precautions are needed to prevent perinatal bleeding in both the mother and the newborn baby. This review presents current recommendations for the diagnosis and management of haemophilia, which are generally based on observational studies and case series because few randomised clinical trials have been published in this relatively rare disease.

Sources and selection criteria

We searched Medline and the Cochrane Database of Systematic …

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