Haemophilia

Haemophilia is an inherited bleeding disorder, which means it can be passed from parents to their children. If you have haemophilia, your blood doesn't clot properly. This can lead to bleeding that is difficult to control.

In your blood, there are special proteins called 'clotting factors'. When a blood vessel is injured, clotting factors control blood loss by plugging or patching up the injury. People with haemophilia have lower than normal levels of a clotting factor.

Haemophilia is rare. It usually affects males, and nearly all people with severe haemophilia are males.

What are the types of haemophilia?

There are 2 types of haemophilia:

• Haemophilia A (also called classic haemophilia) is the most common type — it is caused by a lack of clotting factor 8.
• Haemophilia B (sometimes called Christmas disease) is caused by a lack of clotting factor 9.

It's important to know the type of haemophilia you have, as each type requires different clotting factor treatment.

Both types of haemophilia show the same symptoms. Some people have mild haemophilia, while others are more severely affected.

The main signs of haemophilia are:

• easy bruising from an early age
• internal bleeding for no obvious reason, especially in your joints and muscles
• greater than normal bleeding after injuries or surgery

Haemophilia is rare in females, and females who are affected usually have mild disease. But some females with haemophilia can have:

• heavy or long periods, which can cause iron deficiency or anaemia
• heavy bleeding after giving birth

Haemophilia is an inherited condition and usually occurs in families.

Haemophilia is caused by a mutation in a gene that is located on the X chromosome.

Females have 2 copies of the X chromosome in their cells. Males have one X chromosome and one Y chromosome. Males who inherit a gene for haemophilia will be affected by haemophilia.

Females who inherit a gene for haemophilia often have an unaffected gene on their other X chromosome. This is called being a genetic carrier. This means that they can pass on the haemophilia gene to their children, but they may not have haemophilia themselves. For this reason, haemophilia is much more common in males.

Sometimes, haemophilia can be acquired. This occurs when a person's immune system targets their own clotting factors. Acquired haemophilia is very rare and its cause is not known. It may be triggered by another medical condition. This type of haemophilia affects males and females equally.

Bleeding problems often start from a very young age. Most patients with haemophilia are diagnosed as children. But some children don't have symptoms until they begin walking or running.

Other people may not know they have haemophilia until later in life. People with mild haemophilia may not bleed excessively until they get an injury or have surgery.

If you notice symptoms that could be explained by haemophilia, see your doctor.

If your doctor suspects that you have haemophilia, they will:

• ask about your family history
• ask about your symptoms
• do a physical examination
• refer you for blood tests

Blood tests can measure the levels of clotting factors in your blood. They can also show the type and severity of the disease.

Genetic testing can often confirm a diagnosis of haemophilia. It can also help diagnose female carriers with a family history of haemophilia who may not be affected by it.

There is currently no cure for haemophilia, but there are treatments available. Your treatment will depend on:

• the type of haemophilia you have
• how severe your haemophilia is
• the type of bleeding and symptoms you have

Australian guidelines recommend that people with haemophilia get care from a team of healthcare professionals. This team may include a:

• doctor (GP and specialist haematologist)
• specialist nurse
• physiotherapist
• social worker
• psychologist

If you are diagnosed with haemophilia, ask your doctor about the benefits of referral to a haemophilia treatment centre. In these centres, a health team can provide you with comprehensive care.

Replacement factor therapy is treatment to replace the missing clotting factor in your blood. This involves giving clotting factors by infusion (through a drip or port into your bloodstream). Replacement factor therapy can be given:

• regularly, to prevent bleeds or reduce bleeding from injuries
• before surgery or a procedure
• after an injury or accident, to prevent or treat a bleeding episode

Non-factor therapy supports your blood clotting in other ways. This treatment can be used to prevent bleeding episodes. It is given as regular injections under the skin.

If you have haemophilia, you need to be very careful not to injure yourself.

Be sure to learn how to recognise a bleed. Sometimes, there may be no visible signs of bleeding, such as if you bleed inside your body.

Keep aware of any early symptoms of a bleeding episode, which may include:

• a tingling sensation
• pain
• swelling
• warmth
• less ability to move, if the bleeding episode is in a joint or muscle

Your care team can provide you with support, including advice on physical activity. If you need to do an activity where there is a risk of injury, talk to your care team first. You may have replacement factor therapy beforehand to prevent any bleeding episodes.

The most common complication of haemophilia is damage to joints and muscles from bleeding into these areas. These complications are best managed by a multidisciplinary healthcare team.

Severe bleeding in the muscles is a medical emergency.

Bleeding may require urgent treatment if it occurs in your:

• head
• neck
• chest
• gastrointestinal (GI) tract

As haemophilia is an inherited disease, it cannot be prevented.

If you have haemophilia, you can prevent bleeding episodes and complications through clotting factor replacement treatment.

The Haemophilia Foundation Australia (Opens in new tab) provides information (Opens in new tab) and support (Opens in new tab) for people with bleeding disorders.

Visit our genetic disorders guide to learn more about:

• genes
• types of genetic disorders
• where to go for help and more information

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with you 24 hours a day, 7 days a week.