What is haemophilia?
Haemophilia is an inherited bleeding disorder. If you have haemophilia, your blood doesn’t clot properly, which makes it difficult to control bleeding.
When a blood vessel is injured, special proteins in the blood called ‘clotting factors’ act to control blood loss by plugging or patching up the injury. People with haemophilia have lower than normal levels of a clotting factor.
What are the types of haemophilia?
There are 2 types of haemophilia.
- Haemophilia A (also called classical haemophilia) is the most common type. It is caused by lack of clotting factor 8.
- Haemophilia B (sometimes called Christmas disease) is caused by lack of clotting factor 9.
Some people have mild haemophilia, while others are more severely affected.
What are the symptoms or signs of haemophilia?
The main signs of haemophilia are:
- easy bruising from an early age
- internal bleeding for no obvious reason, especially in the joints and muscles
- greater than normal bleeding following injury or surgery
- abnormally heavy bleeding during menstruation or after giving birth
Although bleeding problems often start from a young age, some children don’t have symptoms until they begin walking or running. People with mild haemophilia may not bleed excessively until they get an injury or have surgery.
What causes haemophilia?
Haemophilia is an inherited condition and occurs in families, but in one in 3 cases it appears in families with no previous history of the disorder.
It is caused by a mutation a gene — the instructions found inside cells.
How is haemophilia diagnosed?
If haemophilia is suspected, blood tests can measure the levels of clotting factors. These tests can show the type and severity of the disease.
Genetic testing can often confirm a diagnosis of haemophilia, although a gene mutation can’t always be found.
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How is haemophilia managed?
It is possible to manage haemophilia effectively, although it can be complex.
When someone with haemophilia has a bleeding episode, treatment is needed to help their blood clot and stop the bleeding. This usually involves giving clotting factors by infusion or injection.
People with haemophilia need to be very careful not to injure themselves. They should learn how to recognise a bleed, as there may be no visible signs of bleeding.
Australian guidelines recommend that people with haemophilia receive care from a multidisciplinary team of health-care professionals, made up of doctors, nurses, medical scientists, physiotherapists, social workers and psychologists.
If you are diagnosed with haemophilia, you should discuss with your doctor the benefits of referral to a haemophilia treatment centre, where a multidisciplinary team can provide you with comprehensive care.
Complications of haemophilia
Complications of the disease also need to be managed, such as damage to joints and muscles that can result from bleeding into these areas.
Resources and support
Haemophilia Foundation Australia provides information and support for people with haemophilia.
Visit our genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.
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Last reviewed: August 2020