Haemophilia is a lifelong, inherited bleeding disorder. In haemophilia one of the clotting factor proteins important for blood clotting is either partly or completely missing. People with haemophilia take longer than normal for bleeding to stop. They may have bleeding into joints and muscles without having had an injury, so treatment is aimed at reducing spontaneous bleeding.
There are two types of haemophilia:
- Haemophilia A is a deficiency of factor VIII (8)
- Haemophilia B (also known as Christmas Disease) is a deficiency of factor IX (9)
Females can also be affected with haemophilia.
Having just found out you or your child has haemophilia can leave you feeling shocked and overwhelmed. You may experience many different feelings, including worry and sadness, and you may wonder how you will cope. There’s also a lot of information to take in, often all at the same time, about the condition and treatment.
As haemophilia is rare, you and your child may feel isolated and alone and it can be helpful to be put in touch with others in a similar situation. It’s important to hold onto the fact that with modern treatment a child with haemophilia has every chance of growing up as an active, fit child who can participate fully in family, school and working life.
The outlook is now the best it has ever been for people with haemophilia in the UK. Scientific advances in understanding haemophilia have led to the development of effective treatment. Modern treatment allows children to grow up with the opportunity of a good quality of life and every prospect of fulfilling their potential.
More information is available in our Understanding haemophilia booklet.
WFH Guidelines for the Management of Hemophilia, 3rd edition
Factor XI deficiency (Haemophilia C)
Factor XI deficiency (also known as Haemophilia C) has a very different pattern of bleeding and should not be confused with haemophilia A and B.
It is a bleeding disorder caused by the body producing less of a clotting factor than it should. This causes problems because the clotting reaction that would normally control any bleeding is blocked too early. So your body doesn’t make the blood clots it needs to stop bleeding. Factor XI is important for producing thrombin protein that converts fibrinogen to fibrin during the clotting process.
Factor XI deficiency is rare. Doctors estimate that it affects about one in a million people, but it is much more common in some populations, including the Ashkenazi Jewish community, where it affects up to one in 450 people.
For more information on Factor XI, click here.
Acquired haemophilia
Acquired haemophilia is a rare but serious autoimmune disorder (a system that protects your body from diseases) where the body mistakenly produces antibodies that attack one of its own clotting factors, most often factor VIII (8). It is not hereditary.
People with acquired haemophilia would previously have been well, with no history of bleeding, and would have had normal blood clotting tests. It can happen at any age, but it is most common in older adults and in some women who are in late pregnancy or have recently given birth.
Acquired haemophilia affects both males and females equally.
Acquired haemophilia causes increased bruising and bleeding. Bleeding may be in response to injury but can also happen spontaneously (for no reason). Bleeding can include:
- excessive and prolonged bleeding from cuts
- prolonged bleeding after surgery
- blood in the phlegm, pee (urine), poo (stool), or vomit
Acquired haemophilia is diagnosed on the finding of a low factor VIII level associated with the presence of an inhibitor in the plasma. which will show that the clotting system is not working properly, alongside clinical manifestations such as extensive cutaneous bruising and internal bleeding. These tests are usually performed in a haemophilia centre. These tests include a factor VIII or factor IX (9) level and an inhibitor level to detect the presence of antibodies.
Acquired haemophilia needs different treatment from inherited haemophilia. There are two main goals, which are to:
- stop production of the inhibitor
To treat bleeding, by-passing agents (Feiba) or Novoseven or Obizur is given, which is injected into the veins. Also, a medication called tranexamic acid can be given in the form of tablets or as an injection.
To remove the inhibitor, steroids (such as prednisolone tablets) are given.
Sometimes, extra treatments (such as rituximab or mycophenolate mofetil) are used to suppress the immune system. This treatment weakens your immune system, increasing your risk of infections that can be more severe.
After stopping the treatment, you will have follow-up appointments for one year to check that your condition does not return. For most people, there will only be one episode.
Disclaimer: This website is for information purposes only and provides an overview of the subject matter covered. It is not a substitute for professional medical advice, diagnosis or treatment. Always consult your haemophilia centre for specific advice on your healthcare concerns. The information on this website is subject to change without notice.