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. About 6,000 people are affected with haemophilia in the UK. 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.
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.
From 1986, heat and chemical treatment of blood products to eliminate blood borne viruses began. A more recent development is recombinant clotting factor, where the missing factor is produced by genetic engineering.