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What is haemophilia?
Haemophilia is a blood clotting disorder in which one of the essential clotting factors is deficient. Haemophilia A, or Classical Haemophilia, is the most common form, and is due to the deficiency of factor VIII. Haemophilia B, or Christmas Disease, is due to the deficiency of factor IX.
Bleeding is mostly internal. The deficiency in clotting factor produces a wide range of bleeding episodes, usually into the joints or muscles. These bleeding episodes, or “bleeds”, may occur spontaneously, or as a result of trauma or injury. The bleeding is stopped by infusion of the appropriate clotting factor by intravenous injection. If internal bleeding is not quickly stopped with treatment, it will result in pain and swelling. Over a period of time bleeding into joints and muscles can cause permanent damage such as arthritis, chronic pain and joint damage requiring surgery.
The common belief that a person with haemophilia gushes blood from cuts and will rapidly bleed to death is a myth. A person with haemophilia bleeds no more profusely than anyone else, just for a longer time. Minor cuts and scratches pose no problem and require only a Band-Aid® and some pressure at the site of bleeding. For deeper cuts, bleeding is prolonged because of the failure of the blood to form a tough, adherent clot at the site of damaged blood vessels. Treatment with clotting factor will then be required.
Is haemophilia hereditary?
Haemophilia is hereditary. It affects males almost exclusively, and is passed on through females who carry the defective gene. However in 1/3 of cases it appears in families with no previous history of the disorder. Some women are symptomatic carriers of the haemophilia gene and may also experience bleeding problems.
How many people in Australia have haemophilia?
In Australia there are approximately 1,800 males who have haemophilia, haemophilia in females is rare.
Is there a cure?
There is as yet, no cure for haemophilia. It is a lifelong condition.
What treatment is available?
Treatment is given by injecting the missing clotting factor into veins. With appropriate treatment haemophilia can be managed effectively.
For more information contact your treating doctor, a haemophilia centre in your State/Territory, or Haemophilia Foundation Australia.
Source: This fact sheet is reproduced with permission from the Haemophilia Foundation Australia Haemophilia fact sheet (May 2006).
For more information visit www.haemophilia.org.au