Haemophilia

About haemophilia

Haemophilia causes your blood to clot more slowly than usual because of a lack of one blood clotting factor. This means that you’re more likely to get large bruises, even after minor injuries, and you’re more at risk of severe bleeding after serious injuries or operations. Although haemophilia is usually inherited, it’s possible to develop a form of haemophilia later in life. See our frequently asked questions for more information.

About 6,000 people in UK have haemophilia and most of these people are boys or men.

Types of haemophilia

There are two types of haemophilia.

  • Haemophilia A – also known as classical haemophilia. This is the most common type and is caused by a lack of clotting factor VIII (factor eight).
  • Haemophilia B – also known as Christmas disease. This is a rarer form of haemophilia and is caused by a lack of clotting factor IX (factor nine).

Haemophilia can be mild, moderate or severe. This depends on the amount of clotting factor you have in your blood.

  • Mild – you will probably only need treatment for your haemophilia if you’re having an operation, including dental surgery, or if you have a serious injury.
  • Moderate – you will need treatment for your haemophilia if you’re having an operation, including dental surgery, or if you have any injury.
  • Severe – you will need treatment for your haemophilia regularly because you’re likely to have internal bleeding that starts with no obvious cause, as well as severe bleeding after any injury or operation.

Symptoms of haemophilia

The symptoms of haemophilia A and B are the same and include:

  • getting large bruises
  • bleeding into muscles and joints, especially your knees, elbows and ankles
  • bleeding for a long time after a cut, dental surgery or an operation
  • bleeding into internal organs, such as your liver or stomach or, most seriously, your brain

Bleeding into your joints is the most common problem. The symptoms may include:

  • tightness in your joints, but without pain
  • tightness and pain in your joints before you can see any bleeding or bruising
  • swollen joints that may be warm to touch and difficult to move
  • severe pain in your joints, which you may be unable to move at all

The bleeding usually slows after several days when your joint is full of blood. Eventually, you can get chronic (long-term) arthritis in your joints after having many episodes of bleeding.

These symptoms aren't always caused by haemophilia, but if you have them, see your GP.

Complications of haemophilia

If your bleeding isn't treated, it can be very painful and cause long-term damage to your joints and internal organs. Other possible complications are described below.

Arthritis

Sometimes, if you had bleeding into a joint before, you may be more likely to get bleeding in that joint again. This is known as a ‘target joint’. If the bleeding into this joint happens often and isn’t treated, it’s more likely that you will develop arthritis.

Bleeding in your brain

A slight head injury can lead to bleeding in your brain, which is one of the most serious complications of haemophilia and can be life-threatening. Symptoms of bleeding in your brain include:

  • having a headache
  • difficulty walking
  • frequent vomiting
  • changes in behaviour
  • sleepiness
  • neck pain or stiffness
  • double vision
  • fits

If you have any of these symptoms, seek urgent medical attention.

Problems with your clotting factor

If you have moderate or severe haemophilia you’re likely to be treated with clotting factor to help control your bleeding symptoms. Another possible complication is that your body’s immune system can make antibodies against this clotting factor. The antibodies that are made are called inhibitors. If you develop this problem, it makes your treatment more complicated. See our frequently asked questions for more information.

Causes of haemophilia

Haemophilia is an inherited condition. This means that it’s passed from parents to their children by chromosomes. Chromosomes are structures that contain genes – these contain the instructions for life and are inherited from parents. Not all children will get haemophilia, even if one of their parents has the condition, because the faulty gene that causes it is only found on the X chromosome.

How haemophilia can be passed on is shown in the illustration below. However, some people will have no family history of haemophilia because the disorder has happened due to a spontaneous change (mutation) in their own genes.

Diagnosis of haemophilia

If your GP thinks that you might have haemophilia, he or she will refer you to a haematologist (a doctor who specialises in identifying and treating conditions of the blood). Your haematologist will take some blood samples for testing. These will be used to measure the level of the clotting factors you have in your blood, particularly factor VIII and factor IX. The results will show whether you have haemophilia and, if so, which type and its severity. This is important because your treatment will vary depending on the type you have.

Typically, severe haemophilia is diagnosed in young children, especially around the time they are learning to walk. However, adults with mild haemophilia may not be diagnosed until after they have a serious injury.

Treatment of haemophilia

If you have haemophilia, you will be referred to your local haemophilia centre. Treatment generally involves replacing your missing clotting factor. Your doctor will give you the clotting factor by injection into a vein (intravenously) when you need it, or you can be taught how to give yourself these injections. If you have haemophilia A, you will be given clotting factor VIII, but if you have haemophilia B, you will be given clotting factor IX. How often you need treatment will depend on the severity of your haemophilia.

There are some risks involved in the treatment of haemophilia with clotting factor. It’s possible for diseases such as hepatitis and HIV to be passed on to you. However, the risk of this happening is now very small because of better screening and treatment of the factors to inactivate viruses. Clotting factor can also be manufactured – this type is known as recombinant. There is less risk of diseases from these types of clotting factor.

Treatment of mild haemophilia

If you have mild haemophilia, you still have some clotting factor in your blood, so you’re less likely to have bleeding that starts without an injury. This means that you will probably be treated ‘on demand’. This means you will only be given treatment when you need it, such as before you have surgery, including a dental extraction, or if you have a serious injury, such as a head injury.

Your treatment may include being given clotting factor. However, if you have mild haemophilia A, an alternative treatment is an injection of a medicine called desmopressin that can temporarily increase the amount of factor VIII in your blood to prevent excessive bleeding during surgery.

Treatment of moderate or severe haemophilia

If you have moderate or severe haemophilia A or B, you have very little factor VIII or factor IX in your blood and you will need factor replacement treatment for any surgery. You’re also more likely to have bleeding that begins without any injury, or with only a very minor injury. This bleeding may be into your joints, or in your internal organs, such as your stomach, kidneys or brain. This type of bleeding can lead to long-term disability and is potentially life-threatening if it’s not treated quickly. For these reasons, many people with severe haemophilia are given preventive (also known as prophylactic) treatment. This involves regular injections of clotting factor to maintain the level in your blood and prevent the bleeds from happening.

You can be taught how to give yourself these injections and you may have a port-a-cath (venous access device) inserted under your skin. This makes carrying out the injections easier because you won’t have to find a vein each time. You will need to have an operation to insert the port-a-cath device.

Special considerations

Medicines

It’s important not to take any medicine that may affect how well your blood clots unless specifically advised to do so by a doctor. These include aspirin and non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, so don’t use these. Some herbal products, such as ginseng, can also affect your blood’s ability to clot. Foods that you should not eat in large amounts include garlic and ginger.

Speak to your GP or pharmacist before taking any medicines or herbal products that haven’t been prescribed to you. Always read the patient leaflet that comes with your medicine.

Starting a family

If you’re planning to have children and you have haemophilia, or you’re a carrier, you can get advice from your GP, haemophilia centre or a genetic counsellor, who helps people understand and deal with genetic disorders.

It’s possible to carry out tests during pregnancy to find out if your baby has haemophilia. Tests include chorionic villus sampling, amniocentesis and fetal blood sampling.

If the tests show that your unborn baby does have haemophilia, seek advice from your haemophilia centre doctor and your obstetrician (a doctor who specialises in pregnancy and childbirth) about any possible problems or complications that may be more likely during the birth. You can also ask questions and discuss any concerns you may have.

Living with haemophilia

If you have a child who has haemophilia, you may find it useful to make some adjustments in your home to help prevent your child getting injured. Things to look out for include trailing wires, sharp edges and rugs that can slip or wrinkle up.

Taking part in sports can help to build your muscles and protect against bleeding into your joints. Exercises you might like to try include swimming, cycling and walking. However, taking part in contact sports, such as rugby, isn’t recommended because of the risk of injury.

It’s important to carry information and details about your condition that can be used to treat you appropriately in the case of an emergency. You may choose to wear a medical bracelet for this reason.

My son was born with haemophilia and has developed an inhibitor. Is this serious?

Answer

Yes, this is serious. If your son has developed an inhibitor, this will make the treatment of his haemophilia more complicated.

Explanation

If your son has developed an inhibitor, it’s because his immune system has made antibodies against the clotting factor he has been given as a treatment. The antibodies that are made are called inhibitors. These are made because his immune system sees the clotting factor as an invader, just like harmful bacteria or viruses, so attacks it. This will destroy the clotting factor before it can carry out its function of preventing bleeding. This means that he will find that his bleeding is more difficult to control and he will need more clotting factor treatment to stop any bleeding. He may also find that he gets bleeding into his joints more often, which are harder to stop.

There are some special clotting factor preparations available that can be used to overcome this problem. They include FEIBA (factor eight inhibitor by-passing activity) and NovoSeven (activated factor seven). These work in different ways to increase the amount of clotting factors in the blood. Antifibrinolytic medicines, such as tranexamic acid, may also be useful.

Another possibility is immune tolerance induction. If your son has inhibitors, he would be given many doses of the clotting factor over months or years. This process trains his body to recognise the clotting factor without reacting to it. If immune tolerance induction is successful, the inhibitors disappear and he would begin to respond well to treatment with the clotting factor again. 

My daughter is a haemophilia carrier. How will this affect her?

Answer

The effect of being a haemophilia carrier varies from woman to woman. Although your daughter is unlikely to have serious bleeding problems that are common in men with haemophilia, three out of 10 female carriers do have some symptoms. Being a carrier also means there is a chance she could pass on the faulty gene for haemophilia to any children she has.

Explanation

Your daughter may have symptoms of haemophilia that are associated with her being a carrier of the condition. This means she may bleed for longer after an injury than women who aren’t carriers and bruise more easily. She may need to be given clotting factor treatment or desmopressin if she is having an operation, dental surgery or giving birth.

Some carriers find that they have heavier and longer periods than other women. However, there are many reasons for having heavy periods (menorrhagia), so if this is causing your daughter a problem, she should see her GP. There are a number of treatments available to deal with heavy periods and your daughter will likely find one that suits her.

Your daughter may have no symptoms of being a carrier of haemophilia, but there is still the possibility that she can pass on the faulty gene to any children she has. The chance of her passing on the faulty gene to any children she has is one in two. Your daughter may find that it’s helpful to discuss this chance with a genetic counsellor if she is pregnant or planning to become pregnant. Her GP can also refer her to a haemophilia centre for advice.

Can I be diagnosed with haemophilia as an adult?

Answer

Yes. Although haemophilia is typically diagnosed in children, it's sometimes not recognised until adulthood if you have a mild or moderate form of the condition. Adults may also develop a condition called acquired haemophilia, but this is extremely rare.

Explanation

Haemophilia A and B are usually diagnosed in young children. This is because the symptoms, such as getting large bruises or bleeding into joints, become obvious when children are still young, especially when they are learning to walk.

However, if you have a mild or moderate form of haemophilia, the condition may not be noticed unless you have a serious injury or an operation later in life. Once you have been diagnosed with haemophilia, you can be treated when you need it to prevent further problems.

It’s also possible for adults to develop a condition called acquired haemophilia. This happens because your immune system begins to attack the clotting factor that your body makes, usually clotting factor VIII (factor eight), and destroys it. Without factor VIII, you will begin to have problems with your blood clotting.

Acquired haemophilia can develop in men or women, usually in middle age or later in life. It's extremely rare, with about one person diagnosed per million people each year. It's more common after pregnancy or surgery, in people with certain types of arthritis or cancer, and after treatment with certain medicines.

Although acquired haemophilia is a serious condition, once it's diagnosed it can usually be treated.

What can I do to ease the pain from bleeding?

Answer

The best way to ease pain from bleeding is to treat the bleeding so that it stops. However, if you’re still in pain, you may find taking over-the-counter painkillers helps. Paracetamol is suitable and can be effective, but don’t take aspirin or non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, because these medicines can affect your blood’s ability to clot and make your bleeding worse. If you have severe or long-term pain, see your GP or doctor for advice. In some cases, joint replacement surgery may be the best option for you.

Explanation

If you have mild pain, you can take paracetamol. Always read the patient information leaflet that comes with your medicine and if you have any questions, ask your pharmacist.

Don't take aspirin, or painkillers called NSAIDs, such as ibuprofen, unless your haemophilia centre specifically tells you to. Aspirin and NSAIDs can affect how well your blood clots and may cause inflammation of the stomach and stomach ulcers, which can increase the risk of further bleeds.

For severe or chronic (long-term) pain, you may need to see your GP or haemophilia centre to be prescribed stronger painkillers. Opiates, such as morphine, can be used to help control severe pain. If you have arthritis in a joint (eg your knee) that has been damaged by repeated bleeding, then you may be referred to an orthopaedic surgeon for a joint replacement. You will need to have clotting factor treatment for a number of days if you have this surgery carried out.

If you have chronic pain that you find hard to cope with, you can be referred to a pain clinic where you may be prescribed other medicines. The pain clinic may also help you to find other ways to manage your pain, such as those described below.

  • Physiotherapy may help relieve joint stiffness and pain, as well as improving your muscle strength, which increases your mobility.
  • Relaxation techniques, such as deep breathing exercises, can help to take your mind off the pain.
  • Using an ice pack can be beneficial for joint pain, as well as resting the joint. Ice the joint using an ice pack or ice wrapped in a towel to reduce swelling and bruising. Don’t apply ice directly to your skin as this can damage it.
  • Pacing yourself or altering the way you do activities can help prevent or ease pain.
  • Coping techniques include the use of activities or hobbies as a distraction from the pain.
  • Complementary therapies, such as therapeutic massage, may help some people to cope with their pain. However, evidence is limited for how safe or effective the various available therapies are. Acupuncture may not be recommended because of the risk of bleeding caused by the needles. Always ask your doctor for advice before having a therapy. Also, check whether your therapist is affiliated to a recognised body.