Haemophilia

Haemophilia is a rare condition that affects your blood's ability to clot. It's usually inherited and most people who have it are male.

Key points 

  1. Haemophilia is a bleeding disorder. There are different kinds of bleeding disorders. The two most common are haemophilia and von Willebrand disease.
  2. People with haemophilia are missing a clotting factor in their blood. This means their blood doesn’t clot properly and they bleed for longer than normal.
  3. The main symptom of haemophilia is bleeding that doesn’t stop. You may also notice your skin bruises easily.
  4. Clotting factor medicines are used to replace the missing clotting factors. This means bleeding can be controlled.
  5. Haemophilia is a lifelong condition but it can be managed so that you can live a normal life.

What is haemophilia?

Haemophilia is a bleeding disorder. For most people, when you cut yourself, clotting factors in your blood combine with blood cells called platelets to make your blood sticky. This makes the bleeding stop eventually. 

If you have haemophilia, you are missing a clotting factor in your blood. This means your blood doesn’t clot properly and you bleed for longer than usual. 

The two most common types of haemophilia are:

  • Haemophilia A – this is the most common type and is caused by a factor VIII deficiency. Recent studies indicate that around 87% of haemophilia cases globally are haemophilia A.
  • Haemophilia B – the second most common type is caused by a factor IX deficiency (sometimes known as Christmas Disease). 

Haemophilia is an inherited condition, which means it is passed on from your parents. It is rare and mainly affects males: 1 in 10,000 males born in New Zealand has haemophilia. Female carriers may have mild symptoms and, very rarely, severe symptoms. 

Read more about inheritance of haemophilia.

What are the symptoms of haemophilia?

The symptoms of haemophilia can be mild to severe, depending on the level of clotting factor you have.

The main symptom is bleeding that doesn't stop (prolonged bleeding). For many people with haemophilia, the bleeding won’t stop without an injection of the appropriate clotting factor medicine (see treatment summary below and full details here).

Bleeding can be external or internal:

External – on the outside of your body, where it's visible. You may notice:

  • nosebleeds that take a long time to stop
  • bleeding from wounds that lasts a long time
  • bleeding gums.

Internal – on the inside of your body, where it's not seen such and is harder to identify. You may notice: 

  • skin that bruises easily
  • tenderness, swelling or stiffness around your joints, such as elbows
  • an ache or funny feeling in a joint or muscle.

In babies, the first signs of haemophilia are usually heavy bleeding from the mouth from bites to their gums and tongue, or severe bruising.

How is haemophilia diagnosed?

See your doctor if:

  • you or your child bruises easily and has bleeding that doesn't stop
  • you or your child have symptoms of joint bleeds, eg, tingling, pain or stiffness in the joint, and the joint becoming hot, swollen and tender
  • you have a family history of haemophilia and you're pregnant or planning to have a baby.

You will be asked to have a blood test, which can diagnose haemophilia and find out how severe it is.

If there's no family history of haemophilia, it's usually diagnosed when a child begins to walk or crawl. Mild haemophilia may only be discovered later, usually after an injury or a dental or surgical procedure.

How is haemophilia treated?

The aim of treatment is to reduce the risk of prolonged and excessive bleeding. Bleeding can be controlled by injections of a clotting factor medicine.

Clotting factor medicines are very concentrated. A small amount can control major bleeds, even in surgery. Treatment needs to be given as quickly as possible to prevent long-term damage. The medicine can be effective for up to 3 days.

Most clotting factor medicines are made using genetic engineering to create artificial products that contain no human blood components. Those that are made from donated human blood are subject to rigorous testing and viral inactivation steps to make them as safe as possible.

Approaches to treatment

There are two main approaches to treatment, depending on the severity of your condition:

  • preventative therapy – where regular injections of clotting factor medicine are given to help pevent episodes of bleeding and prevent joint and muscle damage
  • on-demand therapy – where an injection of clotting factor medicine is given in response to a bleed.

You will also need treatment to manage pain, as swelling caused by bleeds, especially in the joints, can be extremely painful. You will also need treatment to manage pain, as swelling caused by bleeds, especially in the joints, can be extremely painful.

Read more about treatment for haemophilia.

What complications may arise with haemophilia?

Repeated bleeding in and around your joints causes damage to them. This is similar to the damage and pain caused by arthritis, but you are likely to experience it at an earlier age.

A more serious complication is that some people with haemophilia develop antibodies, called inhibitors, to the clotting factor medicines. This makes them ineffective. This means bleeding can’t be controlled quickly and there is a risk of permanent damage from bleeding into your joints or death from serious internal bleeding.

In the past, there has also been the risk of infection from blood-borne viruses. However, in New Zealand, current blood-donor screening and the use of recombinant factor products have removed nearly all risk of getting viruses through blood products.

What is the outlook for someone with haemophilia?

There's no cure for haemophilia, but there is treatment that means you can enjoy a good quality of life. With proper treatment, life expectancy for people with haemophilia is almost the same as those without haemophilia.

How can I care for myself with haemophilia?

Good self-care includes:

  • avoiding contact sports, such as rugby
  • being careful taking other medicines – some can affect your blood's ability to clot, such as aspirin and ibuprofen
  • maintaining good oral hygiene and having regular trips to the dentist so you do not develop gum disease (which can cause bleeding).

What support is available with haemophilia?

The Haemophilia Foundation of New Zealand supports and represents people with haemophilia and other related bleeding disorders in New Zealand. HFNZ runs a number of programmes and services for people with bleeding disorders and their families.
Haemophilia Treatment Centres provide a comprehensive service for people with haemophilia, and their family, for the treatment of haemophilia and related conditions.

Learn more

The following links provide further information about haemophilia. Be aware that websites from other countries may have information that differs from New Zealand recommendations.   

How do I recognise a bleed and what should I do? Auckland DHB Haemophilia Centre, NZ
Haemophilia treatments Pharmac, NZ, 2018
Haemophilia – a guide for parents of a newly diagnosed child Haemophilia Foundation, Australia, 2017

References

  1. Haemophilia NHS, UK, 2017
  2. Haemophilia Haemophilia Foundation NZ
  3. Treatment Haemophilia Foundation NZ
  4. Complications of haemophilia Haemophilia Foundation NZ
Credits: Health Navigator Editorial Team .