What is haemophilia?

Haemophilia is a bleeding disorder caused by a gene mutation. 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 your blood called ‘clotting factors’ act to control blood loss by plugging or patching up the injury. If you have lower than normal levels of a clotting factor, then you have haemophilia.

Types of haemophilia

There are two types of haemophilia.

• Haemophilia A (also called classical haemophilia) is the most common type. It is caused by lack of clotting factor 8, which results from a mutation in gene F8.
• Haemophilia B (sometimes called Christmas Disease) is caused by lack of clotting factor 9, which results from a mutation in gene F9.

Some people have mild haemophilia, while others are more severely affected.

Symptoms or signs of haemophilia

Most people who have haemophilia have a family history of bleeding problems. The main signs of haemophilia are:

• easy bruising from an early age
• 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 (in females). 

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. 

Haemophilia diagnosis

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.

Living with haemophilia

Haemophilia can be complex to manage. 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 which can provide you with comprehensive care by a multidisciplinary team.

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.

Complications of the disease also need to be managed, such as damage to joints and muscles that can result from bleeding into these areas.

Where to go for help?

Haemophilia Foundation Australia provides information and support for people with haemophilia.

More information

Visit our genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.