Severe Haemophilia A
Information for patients, parents, and carers from the Haemophilia Centre
What is Haemophilia A?
Haemophilia A is a rare condition that affects blood clotting. It affects around 1 in 10,000 males in the UK.
People with Haemophilia A do not bleed faster, but may bleed for longer than expected.
Bleeding from scrapes and cuts do not usually cause too many problems for people with severe Haemophilia A. The main problems arise from bleeding that can happen internally, particularly in to your muscles and joints.
For further information, please see our information sheet How to recognise a bleed.
How does Haemophilia A affect blood clotting?
Factor VIII is a protein made by your liver. It helps make your blood clot when there is blood vessel injury. If you have Haemophilia A:
you do make enough of this protein for your blood to clot normally, or
what you do have of the protein may not work as well as it should.
The normal level of Factor VIII in the general population should be 50 to 200 iu/dl or %. In severe Haemophilia A your level of Factor VIII is less than 1 iu/dl or %.
How do you get Haemophilia A?
Haemophilia A is an inherited condition (you are born with it), and the pattern of inheritance is X-linked. This means that usually men are affected by the condition and women are carriers. However, it is worth noting that some carriers can have low levels of Factor VIII and may have some bleeding problems.
Women carry two X-chromosomes and men one X-chromosome and one Y-chromosome. The haemophilia gene is carried on the X-chromosome. Mutations can happen; the mutation means the haemophilia gene cannot make enough Factor VIII.
In seven out of 10 cases of people born with Haemophilia A, there is a family history of the condition. In as many as three out of 10, either the mother is unaware she is a carrier or the condition has happened spontaneously.
What are the symptoms of Haemophilia A?
Nose bleeds
Bleeding from gums
Easy bruising
Bleeding during and / or after surgery
Bleeding after trauma / injury
Bleeding into your muscle
Bleeding into your joints (haemarthrosis)
Blood in your urine (haematuria)
Bleeding in your stomach or intestines (blood in stools (poo) or black tarry stools)
Bleeding into your brain.
How is Haemophilia A diagnosed?
Haemophilia A is diagnosed through a blood test.
If we were aware of your family history, it may be that we have tested your child’s blood from the umbilical cord sample at the time of their birth.
We always confirm a diagnosis with a second blood test. We send this blood to a specialist centre to find the genetic mutation causing your haemophilia. This information is useful to test other family members, particularly girls who may be carriers. Knowing the mutation can save a considerable amount of time for future searches.
How is Haemophilia A treated?
There is currently no cure for Haemophilia A but there are very good and effective treatments available to manage the condition. With the right treatment your child will be able to live a normal and active life. Today, a child born with severe haemophilia has a normal life expectancy.
Haemophilia A is treated by replacing the missing Factor VIII. If there is a bleeding problem, this treatment is given straight into the vein in the short term; this is known as on demand treatment. Usually around the age of one year we will need to start regular replacement or “prophylaxis”. We would administer this more easily using a Portacath.
For more information see the information sheets Implantable port (portacath or port) and Prophylaxis.
Replacement Factor VIII
Emicizumab (Hemlibra)
Antifibrinolytic Agents (Tranexamic Acid)
Replacement Factor VIII
Recombinant Factor VIII replaces the missing Factor VIII in your body. Recombinant means that it has been made in the laboratory and does not come from blood donors. It is given to you over two to five minutes either:
through a small butterfly needle or
a cannula (a small tube directly into a vein in your arm).
Are there any side effects or risks to this treatment?
Treatment is generally very well tolerated so side effects are uncommon. Some reported side effects include fever, headaches, or allergic reactions.
There is an important risk you need to be aware of with replacement Factor VIII, and that is the risk of inhibitors. Please see the Inhibitors patient information sheet for more information.
Emicizumab (Hemlibra)
Emicizumab (Hemlibra) a new treatment option for Haemophilia A. It mimics or copies the way that Factor VIII works in the body.
It is given as an injection just under the skin either weekly or every two weeks. This can prevent bleeding but it does not treat bleeding so replacement Factor VIII may be needed. Please see the Emicizumab patient information sheet for more information.
Are there any side effects or risks to this treatments?
Treatment is generally very well tolerated so side effects are uncommon.
However, some reported side effects include fever, headaches, or allergic reactions. With Emicizumab irritation where you give the injection is a common side effect.
Replacement factor VIII does carry one important risk which you need to be aware of, this is the risk of inhibitors. Please see the Inhibitors patient information sheet for more information.
Antifibrinolytic Agents (Tranexamic Acid)
Tranexamic Acid works by stopping the early breakdown of a clot, that has been made after injury to your blood vessel. Fibrin gives the blood clot stability. Tranexamic Acid stops the substances that destroy the fibrin within the clot.
When your son is small we can get Tranexamic Acid syrup from the hospital pharmacy. It needs to be ordered specially and has a short expiry date.
Once he starts eating solid food we would advise he takes the tablets. These come in 500mg tablets but are easy to break in half if necessary. They should not be chewed but can be crushed and then mixed with a small amount of soft food such as yoghurt.
Are there any side effects?
Side effects are rare but include:
nausea (feeling sick) and vomiting
diarrhoea
joint or muscle pain or cramps
headache or migraine
runny or stuffy nose
stomach or abdominal pain.
Other side effects can include skin rash and changes to colour vision. If you do have any side effects, please contact the Haemophilia Centre for advice.
Where can I find more information about Haemophilia A?
There are several sources of useful information about Haemophilia A, including the following.