About Haemophilia

Haemophilia is a genetic condition which affects the blood clotting process in the body.  Blood contains proteins called ‘factors’ and these are essential to the clotting process. Haemophilia occurs when there has been a genetic change which has affected one of these factors.   

Haemophilia only affects men, but women can be carriers of the gene and pass it on to their sons (There are other, similar bleeding disorders which affect women, including Von Willebrands). Although haemophilia is often a hereditary condition, in some cases it occurs when there is no history of it in the family.

What being haemophiliac means

The effects on the body can be anything from quite mild to very severe. A cut or graze will not usually cause a problem, but if a bleed happens as the result of an injury to a joint, for example, bleeding internally into the joint can be more serious. Untreated it can cause pain, swelling or muscle spasms in the surrounding area.

If there are frequent bleeds, a person with haemophilia may experience severe pain and mobility problems and as they get older, arthritis is common.

How it's treated

At present there are around 6000 haemophiliacs in the UK – diagnosis is based on family history and blood tests. It can be treated by injection of factor concentrates which help the blood to clot. These can either be given regularly to prevent bleeds (prophylaxis) or only when bleeding occurs. 

Quite recently, synthetic clotting factors (known as ‘recombinant’ clotting factors) have been made available to haemophiliacs. Previously clotting factors were made from pooled donated blood – it could take up to 30,000 donations of blood to make one batch of factor concentrate.