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.

On this page, you can find the following information:

What is haemophilia?
What are the symptoms of haemophilia?
How is haemophilia diagnosed?
How is haemophilia treated?
What complications may arise with haemophilia?
What is the outlook for someone with haemophilia?
How can I care for myself with haemophilia?
What support is available with haemophilia?

Key points

Haemophilia is a bleeding disorder. There are different kinds of bleeding disorders. The two most common are haemophilia and von Willebrand disease.
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.
The main symptom of haemophilia is bleeding that doesn’t stop. You may also notice your skin bruises easily.
Clotting factor medicines are used to replace the missing clotting factors. This means bleeding can be controlled.
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 prevent 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 NZ 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 – a guide for parents of a newly diagnosed child Haemophilia Foundation, Australia, 2017

References

Haemophilia NHS, UK, 2017
Haemophilia Haemophilia Foundation NZ
Treatment Haemophilia Foundation NZ
Complications of haemophilia Haemophilia Foundation NZ

Reviewed by

	Dr Helen Kenealy is a geriatrician and general physician working at Counties Manukau DHB. She has a broad range of interests and has worked in a variety of settings including inpatient rehabilitation, orthgeriatrics and community geriatrics.

Resources

Support

Phone Healthline for free on 0800 611 116 any time of the day or night for advice on any health issue, no matter how small. In an emergency, phone 111 for an ambulance.
Haemophilia Foundation of NZ phone 03 371 7477

Brochures

Haemophilia

Haemophilia Foundation, Australia, 2013

Mild haemophilia fact sheet

Haemophilia Foundation, Australia, 2013

What is the treatment for haemophilia?

People with haemophilia are at risk of prolonged and excessive bleeding caused by a deficiency of clotting factor VIII or factor IX. Haemophilia can be treated safely and effectively by the use of clotting factors medicines.

Clotting factor medicines are given as concentrates (called factor concentrates or factor replacements), which are infused, or injected into the bloodstream. They are very concentrated so that a small amount can control major bleeds, even in surgery. For severe bleeds it is very important that treatment is given as quickly as possible to prevent long-term damage. Clotting factor medicine can be effective for up to 3 days.

Most factor VIII or IX 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 how severe your condition is:

preventative therapy – where regular injections of clotting factor medicine are given to help prevent 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.

Preventative therapy

Most cases of haemophilia are severe and need preventative treatment (prophylaxis). This involves regular injections of clotting factor medicine.

Instead of just using on-demand therapy when a bleed occurs, many children and young adults have regular injections of clotting factor medicine to prevent bleeding. Preventative therapy aims to keep the levels of Factor VIII or IX in the blood high enough that clots can form easily if a bleed occurs.

Preventative therapy gives children the best chance to reach adulthood without damage to their joints.

On-demand therapy

In mild or moderate cases, treatment for haemophilia may only be necessary as an immediate response to bleeding.

Early treatment is essential to minimise any long-term damage and to lessen any disruption to daily life. If you are treating a bleed at home or outside of the hospital you should:

Inject the clotting factor medicine as soon as possible.
Contact your haemophilia centre to arrange for an appointment to see your nurse or physiotherapist.
Start to follow the PRICE regimen.

PRICE regimen

Protection: protect your joint by not putting weight on it, at least for the first 48 hours, and possibly longer if it is a severe bleed. Use crutches or other supports.
Rest: completely rest the affected area, to allow the swelling to ease and prevent further bleeding, but remember, too much rest can also be damaging, so start to move the joint gently within 1-2 days of treatment.
Ice: applying ice helps to reduce swelling, prevent further bleeding and eases pain. Do not apply place ice directly on the skin as it can burn. Instead use a gel cold pack or make a cold pack from a bag of frozen peas or crushed ice wrapped in a cloth. Apply to the affected area for around 10-15 minutes every 2 hours – do not apply for more than 20 minutes at a time.
Compression: apply pressure and a bandage to the affected area, to reduce swelling and pain. Your physiotherapist can provide you with an elasticated bandage and will make sure it fits properly. A bandage that fits too tightly can cause more damage. Try not to allow wrinkles in the bandage and remove it at night.
Elevation: raise the injured area above the level of your heart. This increases blood flow away from the injured area and reduces swelling and pain. When you elevate your leg, remove the compression stocking to allow for normal circulation. Elevate for about 20 minutes at a time.

Managing pain

You will also need treatment to manage pain, as swelling caused by bleeds, especially in the joints, can be extremely painful. The more swollen an injury becomes, the pain you will feel. You need to avoid aspirin and most non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen as they suppress platelet function and reduce blood clotting. Talk to your doctor or pharmacist before trying any pain medication to discuss possible side effects.

Physiotherapy

Physiotherapy following a bleed helps with recovery from internal bleeding that may have damaged your joints. Your physiotherapist will provide you with a programme of suitable exercises, to get your muscles and joints working again. Physiotherapy appointments are free.

Learn more

What to do if you have a bleed Auckland District Health Board
Haemophilia treatment Haemophilia Foundation of NZ

Information for healthcare providers on haemophilia

The content on this page will be of most use to clinicians, such as nurses, doctors, pharmacists, specialists and other healthcare providers.

Clinical guidelines

From Management of haemophilia – treatment protocols Medical Advisory Committee of the Haemophilia Foundation NZ, 2005

All patients with haemophilia, or other significant bleeding problems, should be registered with a Regional Haemophilia Centre and reviewed by a specialist haematologist on a regular basis.

Severity	Factor VIII or IX activity
Severe	<1%
Moderate	1–5%
Mild	5%–40%

Note. The plasma concentration of factor VIII or IX does not always correlate with the clinical severity of the disease. Some patients with factor concentrations between 1% and 5% have clinically severe disease.

F VIII refers to all types of factor VIII products used to treat patients with factor VIII deficiency. This may be of recombinant or plasma derived origin.
F IX refers to all types of the factor IX product used to treat patients with factor IX deficiency. It may be of recombinant or plasma derived origin. The dosing schedules are those generally recommended for plasma-derived factor IX. Higher doses may be needed for patients receiving BeneFIX because of the lower recovery.

Pain relief must be adequate especially for large joint and muscle bleeds.

Minor joint bleeds should be treated with ice application, analgesics and rested in a functional position. Exercises (initially static) must be started as soon as the pain has subsided. Maintaining muscle function and strength are crucial after a bleed.

Recovery

The factor VIII (or IX) level measured after a given dose of the specific factor can be expressed as (factor) “recovery”. This should be reviewed at least every 2 years but more frequently during rapid growth phases in childhood and adolescence, or where the presence of an inhibitor is suspected.

Dosing

Factor VIII dosing approximation: 1 unit/kg b.w. = 2% rise in factor VIII activity.
Factor IX dosing approximation: 1 unit/kg b.w. = 1% rise in factor IX activity.

Patients should be encouraged to keep a record of all bleeding episodes and details of their product usage. Records of product use will be kept at each treatment centre.

More details at Management of haemophilia – treatment protocols Medical Advisory Committee of the Haemophilia Foundation NZ, 2005

Other resources

Service specifications for haemophilia and related bleeding disorders in NZ 2014
Preimplantation Genetic Diagnosis (PGD) Haemophilia Foundation NZ, 2014
Haemophilia A – Factor VIII deficiency Patient Info Professional, UK, 2014
Haemophilia B – Factor IX deficiency Patient Info Professional, UK, 2014

Regional HealthPathways NZ

Access to the following regional pathways is localised for each region and access is limited to health providers. If you do not know the login details, contact your DHB or PHO for more information: