Key facts: what is haemophilia?

Haemophilia is a blood condition in which an essential clotting factor is either partly or completely missing. This causes a person with haemophilia to bleed for longer than normal. Cuts and grazes are not great problems as a little pressure and a plaster are usually enough to stop bleeding. The main problem is internal bleeding into joints, muscles and soft tissues.

Haemophilia is a lifelong inherited genetic condition, which affects females as carriers and males who inherit the condition. About a third of new diagnoses are where there is no previous family history. It appears world-wide and occurs in all racial groups.

There are two types of haemophilia, the most common being haemophilia A, in which Factor VIII is lacking. In haemophilia B, Factor IX is lacking.

People with severe haemophilia can experience spontaneous bleeding usually into the joints. If left untreated these bleeds cause acute pain and severe joint damage leading to disability. Bleeding episodes have in the past caused difficulties with education and employment, as well as mobility problems for many who have been crippled by the effects of regular bleeding into joints.

Treatment for haemophilia is usually by replacement of the missing clotting factor. In severe haemophilia this is by injecting it on a regular basis (called prophylaxis) to help prevent bleeding. In mild or moderate haemophilia injections will be given at the time a bleed occurs (called on-demand therapy). Regular treatment by prophylaxis - 2 or 3 times a week - helps the blood to clot and minimises the likelihood of long term joint damage. Unfortunately, there is no permanent way of replacing or increasing the clotting factor level.

Before 1986, much of the clotting factor derived from donated blood had been contaminated. The haemophilia community across teh world has been severely affected by contamination of blood products leading to widespread infection of HIV and Hepatitis C. Tragically, over half of those infected have so far died and the emotional cost to bereaved families, who have lost sons, fathers and other relatives is a modern day tragedy.