Haemophilia

Haemophilia is a lifelong, inherited bleeding disorder. In haemophilia one of the clotting factor proteins important for blood clotting is either partly or completely missing. People with haemophilia take longer than normal for bleeding to stop. They may have bleeding into joints and muscles without having had an injury, so treatment is aimed at reducing spontaneous bleeding.

There are two types of haemophilia:

• Haemophilia A is a deficiency of factor VIII (8)
• Haemophilia B (also known as Christmas Disease) is a deficiency of factor IX (9)

The genes responsible for producing factor VIII and factor IX are on the X chromosome, meaning it is passed on by females.

If your mother is a carrier of the haemophilia gene, you have a 50% chance of either having haemophilia if you’re male or being a carrier if you’re a girl. Girls whose fathers have haemophilia will be carriers of the haemophilia gene. Sons whose fathers have haemophilia will not inherit haemophilia.

Females can be affected with haemophilia.

Up to a third of bleeding disorder diagnoses have no known family history and can be the result of a random gene mutation. This means a bleeding disorder diagnosis can come completely out of the blue.

People with severe forms of haemophilia need regular treatment to protect them from bleeds. There are a range of treatment options, depending on your lifestyle and age. These include regular intravenous injections of clotting factor replacement or regular subcutaneous injections of antibodies which mimic the actions of factor VIII and factor IX. People with milder forms of the condition will have treatment when they need it, called ‘on demand’, rather than as regular prophylaxis. Gene therapy is now available for adults with haemophilia B. Gene therapy provides long term relief from disease symptoms but does not currently remove the abnormal gene from the body.

More information from www.haemophilia.org.uk.