What is haemophilia ?
Haemophilia is an inherited disease in which the blood does not clot properly. It is caused by a partial or complete lack of a particular substance in the blood (known as a 'Factor') that is essential for the normal clotting process. For some people with the disease even a minor injury can cause prolonged bleeding, which in some cases may be fatal.
There are two types of haemophilia: haemophilia A, the more common form of the disease, and haemophilia B (also known as Christmas Disease). Haemophilia A is caused by a lack of Factor VIII and haemophilia B is caused by a lack of Factor IX.
Haemophilia is a sex-linked inherited genetic condition that is carried by females but usually only affects males. It is therefore passed from mother to son. A father with haemophilia cannot pass the disorder to his son but the trait will be passed to his daughters who can then pass it on to male offspring. In approximately a third of new cases there is no previous family history.
Haemophilia is a lifelong condition that can affect people of all races. It is usually detected in the first year of life.
What are the symptoms of haemophilia?
The main symptom of haemophilia is excessive bleeding (that is, prolonged bleeding rather than an excessive amount). The severity of haemophilia varies from person to person. Some people bleed excessively from minor injuries while others are affected only by severe injury or during surgery.
In people with severe haemophilia, bleeding into muscles, soft tissue and joints (especially knees, elbows and ankles) can occur spontaneously. This causes acute pain and can also cause severe joint damage which may lead to disability.
What treatment is available?
Replacement of the missing clotting factor is the main treatment for haemophilia. An injection of the relevant factor can be given during an acute episode of bleeding to stop the bleeding. If a large volume of blood has been lost, a transfusion of whole blood may also be needed.
The clotting factor is usually injected on a regular basis to those people with a severe form of the disorder. This is to help prevent bleeding into the joints. Unfortunately, there is no permanent method of providing the missing clotting factor so regular injections are necessary.
Brands of Factor VIII available in the UK include Advate®, Haemate P®, Helixate NexGen®, Kogenate® Bayer, Optivate®, ReFacto AF® and Replenate®.
Some people with haemophilia develop antibodies to the missing clotting factor. These antibodies (also referred to as inhibitors) bind to the clotting factors preventing them from working properly. A preparation called Feiba® may be given to patients with Factor VIII inhibitors. Feiba® is described as a Factor VIII inhibitor bypassing fraction.
Factor IX is available as Benefix®, Mononine® or Replenine VF®.
Factor VIIa (Novoseven®) may be given during surgery or episodes of bleeding if the person has formed antibodies to either of the clotting factors (VIII or IX).
Family members may be taught how to administer the factor during an episode of bleeding.
Self-help measures:
- People with haemophilia should not take aspirin because it has anticoagulant (blood-thinning) properties and promotes bleeding.
- Prompt treatment of any injury should be sought, particularly if a joint has been bumped, because internal bleeding may not be visible.
- Good dental hygiene is essential to prevent damage to the teeth and bleeding from the gums.
Further information available from:
The Haemophilia Society
First Floor
Petersham House
57a Hatton Garden
London EC1N 8JG
Helpline: 0800 018 6068 (Monday to Friday, 10am-4pm)
Email: info@haemophilia.org.uk
Internet: http://www.haemophilia.org.uk
Fact sheet provided by MIMS
Date last reviewed: October 2008
