Haemophilia

Symptoms of haemophilia

Symptoms of haemophilia include:

• bleeding for a long time after an injury, surgery, or having a tooth removed
• bruising easily
• joint pain, stiffness and swelling

Symptoms of haemophilia usually begin in early childhood, but sometimes symptoms may not be noticed until later.

Causes of haemophilia

Haemophilia is caused by a lack of a protein, called clotting factor, that helps blood clot.

Most people with haemophilia are born with it. It is possible to develop haemophilia later in life (acquired haemophilia), but this is very rare.

How haemophilia is passed on

Haemophilia is usually caused by an altered gene being passed on to a child by their parents (inherited).

Men with the altered gene will have symptoms of haemophilia.

Women with the altered gene (carriers of haemophilia) can have symptoms of haemophilia, but this is less common and the symptoms are less severe than in men.

Types of haemophilia

There are different types of haemophilia. The type you have depends on the type and amount of clotting factor protein in your blood.

The main types of haemophilia are:

• haemophilia A – caused by a lack of clotting factor 8 (factor VIII)
• haemophilia B – caused by a lack of clotting factor 9 (factor IX)

Haemophilia A and B have the same symptoms, but the medicines used to treat each type are different.

Haemophilia can be mild, moderate or severe. The less clotting factor you have, the more severe your symptoms will be. People with severe haemophilia need more treatment and are at more risk of life-threatening bleeding.

How haemophilia is diagnosed

If a GP thinks you might have haemophilia, you will have a blood test to check the amount of clotting factor in your blood.

If you or your child are diagnosed with haemophilia, you'll be referred to your local haemophilia centre for treatment.

Diagnosing haemophilia in pregnancy

If you're at risk of having a child with haemophilia, a GP may refer you to a genetic counsellor to discuss the risks and options.

Tests are available before, during and after pregnancy for you and your baby.

These tests may include:

• a genetic test to check if you carry the altered gene
• a blood test during early pregnancy to check the sex of the baby – boys are at more risk of haemophilia
• chorionic villus sampling (CVS) or amniocentesis tests during pregnancy to check if your baby has haemophilia
• a blood test from your baby after birth to check if they have haemophilia

Treatment for haemophilia

Haemophilia is usually treated with injections of clotting factor to replace the missing clotting factor in your blood.

It can also be treated with other medicines including emicizumab, desmopressin and tranexamic acid.

Haemophilia is treated in 2 main ways:

• If you have severe haemophilia, you'll usually need injections up to 3 times a week to prevent bleeding (preventative or prophylactic treatment). You can usually do these injections yourself at home.
• If you have mild or moderate haemophilia, you'll usually only need treatment to stop or reduce bleeding after it starts (on-demand treatment). You may also need treatment before having surgery or dental work.

Some people develop antibodies to clotting factor, called inhibitors, which make this treatment less effective. If this happens, your haemophilia team will work with you to find you a more suitable treatment.

Managing bleeding yourself

Your haemophilia team will usually show you how to treat bleeding yourself at home, with clotting factor injections or other medicines.

If you can, treat any bleeding, including bleeding into joints or muscles, as soon as possible. This will reduce pain, recovery time and the risk of permanent damage.

When recovering from a joint or muscle bleed, following the PRICE steps for sprains and strains can aid your recovery.

For most bleeding you will also need to get medical help.

How haemophilia affects your life

Haemophilia is different for everyone.

For most people, treatment significantly reduces the impact on your daily life. With treatment, people with haemophilia usually have a normal life expectancy.

But some people get complications including:

• damage to joints, sometimes needing joint replacement
• compartment syndrome
• serious bleeding or haemorrhage, especially after surgery or an injury

Treatment reduces the risk of complications.

How to manage symptoms of haemophilia

There are things you can do to stay safe, and prevent bleeds and complications of haemophilia.

Help and support for haemophilia

If you or your child have haemophilia, your haemophilia team will be there to support you throughout your treatment.

You may also find it helpful to get support from other people with haemophilia, or parents of children with haemophilia.

The Haemophilia Society

The Haemophilia Society is a charity that provides support and information to people with haemophilia and other bleeding disorders, and their family and carers.

• Information about haemophilia (the Haemophilia Society)
• Support for haemophilia (the Haemophilia Society)
• Information for women with bleeding disorders (the Haemophilia Society)

Recording information about you and your condition

If you or your child have haemophilia, your care team will pass information on to the National Haemophilia Database.

The database enables the NHS to plan care for people with haemophilia, and helps scientists look for better ways to prevent and treat the condition. You can opt out of your data being used for research at any time.