Haemophilia and treatment frequently asked questions (FAQs)
Whether you or someone in your life has just been diagnosed with haemophilia or was diagnosed some time ago, you probably have some questions about the condition and its treatment. Through this educational resource, Pfizer aims to provide answers to some frequently asked questions that you may find helpful.
What is haemophilia?
Haemophilia describes a group of bleeding disorders. They are quite rare and cause problems with blood clotting. In other words, someone with haemophilia may continue to bleed for longer than normal if they are injured, or start bleeding for another reason.
How common is haemophilia?
The most common type of haemophilia is known as Haemophilia A and affects around 1 in 5000 males worldwide. It occurs when there is not enough factor VIII (8) for normal clotting.
The second most common type of haemophilia is known as Haemophilia B and affects around 1 in 30,000 males worldwide. It occurs when there is not enough factor IX (9) for normal clotting.
How did I get haemophilia?
Haemophilia is usually inherited. This means that it passes down from one generation of a family to the next in their genes. The genes for blood clotting factors are found on the X chromosome. Females have two X chromosomes, while males have only one (in addition to a Y chromosome). As a result, haemophilia occurs more often in males than females.
In about one-third of cases, there is no known previous family history of haemophilia, with the faulty gene having arisen from a spontaneous alteration in the affected person alone.
What are the symptoms of haemophilia?
Symptoms of haemophilia can include:
- Bleeding into joints, muscles or soft tissues (sometimes without an obvious injury).
- Prolonged bleeding after cuts, bites or minor surgery (e.g. tooth extraction or circumcision).
- Bruising on the surface of the skin.
- Blood in the urine.
Where in the body does bleeding commonly occur?
The most common areas of bleeding in a person with haemophilia are the joints and muscles of the arms and legs. Repeated bleeds can weaken a joint over time, which may eventually lead to permanent damage to the joint. Less commonly, bleeds may occur in the brain.
How is haemophilia diagnosed?
A diagnosis of haemophilia can only be made after careful consideration of a person’s medical history and family history, in combination with results from a number of blood tests. These blood tests assess the ability of the blood to clot, as well as determining blood levels of specific clotting factors.
How is haemophilia treated?
The cornerstone of treatment for haemophilia A and B is clotting factor replacement therapy Clotting factor is either made from the plasma of donated blood (known as ‘plasma-derived clotting factor’) or generated artificially using genetic engineering techniques (known as ‘recombinant clotting factor’). The majority of people with haemophilia now receive treatment with recombinant clotting factor.
How is clotting factor replacement therapy given?
Clotting factor replacement therapy is given by infusion into a vein – usually in the back of the hand or at the crook of the elbow. In small children and children with poor veins, repeated intravenous infusions can be difficult and a portacath or ‘port’ may be recommended by the doctor until it becomes easier to access other veins.
How safe is clotting factor replacement therapy when used according to directions?
Technological advances have also led to the availability of clotting factor concentrates that are produced by genetic engineering, as opposed to from human blood. Known as recombinant clotting factors, these are free from viral contaminants, and are now used to treat the majority of people with haemophilia.
What happens if haemophilia is not treated properly?
If haemophilia is not treated properly, over time the muscles and joints can get so damaged that mobility can be affected. That’s why it is so important to treat haemophilia and undergo rehabilitation (with physiotherapy) after bleeds.
Whether you have just been diagnosed with haemophilia or have been living with the condition for a while, it’s important to take an active role in managing your condition. This should involve keeping in regular contact with your Haemophilia Treatment Centre and adhering to any recommended treatment plan. If you have any questions about your condition or its treatment, make sure you speak to your Haemophilia Treatment Centre.