Haemophilia
Haemophilia is a bleeding disorder in which one of the essential clotting factors is deficient.
Haemophilia A is also known as Classical Haemophilia. It is the most common form of haemophilia and is caused by the deficiency of Factor VIII. This means that the body does not make enough Factor VIII.
Haemophilia B is also known as Christmas Disease. It is due to the deficiency of Factor IX. This means that the body does not make enough Factor IX.
Haemophilia is hereditary. It affects males almost exclusively, and is passed on through females who carry the defective genes.
Although many female carriers appear to be unaffected, some have reduced Factor VIII levels and this is associated with a mild bleeding disorder. However, one third of all occurrences appear in families with no previous history.
There is no cure for haemophilia. It is a life long condition. The development of clotting factor concentrates has meant that it can be managed effectively.
Haemophilia can be either mild, moderate or severe, according to the level of clotting factor deficiency. The lack of clotting factor means that people with haemophilia tend to bleed internally into joints and muscles. This can lead to chronic pain and arthritis.
These bleeding episodes, or "bleeds", may occur spontaneously (apparently without any cause), or as a result of trauma (injury). Bleeding can be stopped by infusion of the appropriate clotting factor by intravenous injection.
Complications of treatment in the past have included infection by blood borne viruses such as HIV, Hepatitis B and C (HBV and HCV) resulting in HIV/AIDS illness and liver disease.
Factor replacement products are now treated to eliminate any known viruses. The development of recombinant (synthetic) treatments has also greatly reduced any future risks of virus infection.
Some people also develop inhibitors (or antibodies) to the treatment products.
However, with the development of treatment, Australian children with haemophilia today now face few limitations and their life expectancy is the same as that of the average Australian child.
For more information, visit Haemophilia Foundation Australia’s website at www.haemophilia.org.au
