Haemophilia & You
If you have haemophilia, information contained within this website section may help you to continue to live a normal, healthy life.
Just because you have haemophilia doesn’t mean it has to affect how you live your life. With correct and careful treatment, it is possible to ensure it has very little impact on your life
What is haemophilia?
Haemophilia is a condition that affects the body’s ability to clot blood. When someone experiences a cut or injury, their blood vessels are damaged, which causes them to bleed. When this happens, clotting factors that circulate in the blood kick-start a reaction that results in the formation of a blood clot made of a substance called fibrin that helps to seal the blood vessel and stop it from bleeding.
A person with haemophilia has lower levels of a certain clotting factor in their blood. The less clotting factor they have, the more severe their haemophilia will usually be. People with haemophilia A have less factor VIII and people with haemophilia B have less factor IX than people who don’t have the condition. This means that when a person with haemophilia bleeds, the fibrin blood clot doesn’t form properly in the blood vessel so they continue to bleed.
Factor VIII and factor IX are particularly important for forming fibrin clots in the blood vessels of joints and muscles. It is for this reason that bleeding into joints and muscles is the most serious problem for people with haemophilia
Blood clotting in people with haemophilia
A cut vessel results in bleeding and the blood vessel contracts
Platelets plug the hole
The platelet plug is unstable and breaks down, and the bleeding continues
How did I get haemophilia?
Haemophilia is an inherited condition – that is, it is due to an irregular gene being passed down from your mother. In about a third of people with haemophilia an irregular gene may arise spontaneously. All of the information that is used to build our bodies and to keep them working properly is contained in our genes. These genes contain a substance called DNA. DNA is the ‘genetic code’ that gives us all our characteristic features such as the colour of our eyes and the shape of our faces. Genes are passed on from parents to children when an egg from the mother is fertilised by a sperm from the father.
Certain genes contain the information for producing the clotting factors VIII and IX. Haemophilia is caused by an irregular version of the factor VIII or factor IX gene. The irregularity can result in either no or very little factor VIII or IX being produced or that the factor that is produced does not work properly. This irregular gene is therefore passed down from parents to children.
In many cases there is a family history of haemophilia. However, some cases arise in families where no one else has haemophilia. This could be the result of the formation of an irregular factor VIII or IX gene when something goes wrong during the fusion of the egg and sperm.
How is haemophilia diagnosed?
If there is a family history of haemophilia, a pregnant woman may decide to have a test to find out whether her child will have haemophilia, so that she can be carefully monitored throughout her pregnancy and her child monitored once it is born.
This information may be available as early as 9 weeks gestational age, through the cell-free foetal DNA test. This test has the potential to prevent unnecessary concern in parents by showing if the foetus is female. Children with severe haemophilia are usually diagnosed before they are one year old, but those with a milder form of the condition may not be diagnosed until they are much older. Young children with severe haemophilia may develop dark bruises that seem lumpy – a tell-tale sign that they may have haemophilia. They may also experience a joint or muscle bleed at this time.
If a doctor thinks that a child has haemophilia, they will do a blood test to check how much factor VIII or IX they have in their blood. If they are diagnosed with haemophilia, this test will also establish whether they have mild, moderate or severe haemophilia.
A persons level of factor VIII activity will largely determine the severity of their haemophilia
Who will look after me?
Because haemophilia is a complex condition that may affect many different parts of your body, you will have a diverse team of specialists involved in your care.
As a person with haemophilia, you will receive a wide range of services from your haemophilia centre. You may have visited your haemophilia centre many times already, depending on the severity of your haemophilia and the level of support you require.
You may also have visited a comprehensive care centre. These centres also offer support for the more complex aspects of haemophilia management. The staff at these centres are medical specialists who have expertise in haemophilia, and are trained to deal with complications that can arise in younger people with haemophilia. All patients with haemophilia should be registered at a comprehensive care centre.
Growing up with haemophilia should not stop you from living a normal healthy lifestyle.
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Prophylaxis vs. On-demand Therapy
Over the last few years you may have been receiving factor VIII treatment for your haemophilia as an infusion several times a week. This is known as prophylaxis which aims to prevent bleeds from happening. This differs from on-demand therapy, in which the missing factor is given once a bleed has started. This works best if the bleed is treated as soon as it starts. It is however better to prevent bleeds with propylaxis than to treat the after they occur.
However, once a bleed has occurred within a joint, the joint is more likely to experience further bleeds while it is recovering. The joint may become a ‘target joint’ and may experience repeated bleeds, which can result in long-term joint damage. It is however not only target joint that get arthropathy.
The UK Haemophilia Centre Doctors Organisation (UKHCDO) recommend that people with severe haemophilia receive prophylaxis to prevent these bleeds from happening, because this has been shown to cause less pain and better quality of life than on-demand therapy.1
Prophylaxis and sports
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- Richards M et al. Br J Haematol 2010;149(4):498-507.