What is Haemophilia?
Haemophilia is an inherited bleeding disorder. Blood contains many proteins, often referred to as clotting factors or sometimes just “factors”, which work to stop bleeding. People with haemophilia have a low level or absence of one of these clotting factors in their blood which causes them to bleed for longer periods of time than people with normal blood factor levels. People with haemophilia do not bleed faster than other people and they will not bleed to death from a minor cut or injury. A major problem for people with haemophilia is internal bleeding – mainly into muscles and joints as this can eventually destroy the joints and leave the person crippled and disabled.
There are two types of Haemophilia: Haemophilia A (sometimes called classical haemophilia) and Haemophilia B (sometimes called Christmas disease).
Both are caused by a low level or absence of one of the clotting factors that control bleeding.
Haemophilia A is caused by a deficiency of factor VIII.
Haemophilia B is caused by a deficiency of factor IX.
There is no difference between the presentations of the two types of Haemophilia, except that Haemophilia A is about five times more common than Haemophilia B.
Can Haemophilia be cured?
No, but with proper treatment bleeding can be controlled and people with haemophilia can lead normal lives. A person with haemophilia will have it for life because you are born with a lack or low level of either factor VIII or IX.
Does Haemophilia only affect men?
While Haemophilia affects almost only males – sometimes females can be affected if the father has Haemophilia and if the mother is a carrier of haemophilia - but this is extremely rare.
How common is Haemophilia?
It is not common – it is quite rare. About 1 in 10,000 people are born with Haemophilia A. About 1 in 50,000 is born with Haemophilia B.
In South Africa 1 in 5,000 boys are born with Haemophilia.
How serious is Haemophilia?
It various from mild to moderate to severe. The severity is determined by the level of clotting factor in the blood:
People with mild Haemophilia usually bleed only as a result of surgery or major injury. They may never have a bleeding problem.
People with moderate Haemophilia bleed less frequently, perhaps once a month and usually only after an injury.
People with severe Haemophilia bleed frequently and spontaneously into their muscles or joints and this may happen one to two times per week.
Where do bleeds occur
Most bleeding in Haemophilia occurs internally, into the joints or muscles – but sometimes in more severe cases also into vital organs such as the heart, brain, kidneys, gut and stomach. The joints that are most often affected are the knee, ankle and elbow. Repeated bleeding without prompt treatment can damage the cartilage and the bone in a joint, leading to chronic arthritis and disability. The most serious muscle bleeds are the iliopsoas muscle (the front of the groin area), the forearm and the calf. Some bleeds can be life-threatening and require immediate treatment. These include bleeds in the head, gut or iliopsoas. If a person with haemophilia suspects a bleed in these areas, they have to go to their nearest haemophilia treatment centre as soon as possible. At the treatment centre the bleed will immediately first be treated after which a scan will be done to check the severity and type of bleed. From there on the person will receive treatment twice a day every day for 7 – 14 days – depending on the severity and type of bleed.
How does a person get Haemophilia?
They are born with it. Haemophilia is a genetic disorder which means that the haemophilia gene is passed down from a parent to a child and the child is born with the absence of the clotting factors.
Haemophilia is not an infectious disease and cannot be “caught”.
What are the signs of Haemophilia?
Remember – Haemophilia is a bleeding disorder, so the signs are bleeding. The signs of Haemophilia A and B are the same:
Big bruises for no apparent reason
Pain in the muscles and joints due to the bleeding that is taking place in these muscles and joints
Spontaneous bleeding (sudden bleeding for no clear reason)
Bleeding for a long time after getting a cut, removing a tooth or having surgery
Serious internal bleeding into vital organs such as the heart and brain, most commonly after a serious trauma
How is Haemophilia diagnosed?
Haemophilia is diagnosed by taking a blood sample and measuring the level of factor VIII and IX activity in the blood. These tests can be done at a haemophilia treatment centre.
Can you find out before birth if your child has Haemophilia?
Yes you can – by doing genetic tests.
If the mother is a carrier of Haemophilia, testing can be done before a baby is born. Prenatal diagnosis can be done at 9 – 11 weeks by a process called chorionic villus sampling (CVS) or at a later stage (18 weeks or more) by a process called fetal blood sampling.
How is Haemophilia treated
With medication that contains the missing clotting factor(s).This is done by injecting the medicine that contains the needed factor into a vein. Bleeding stops when enough clotting factor reaches the bleeding site. It is very important that treatment is given as quickly as possible – within 20 – 30 minutes - to prevent long-term damage. With an adequate quantity of treatment products and proper care, people with haemophilia can live perfectly healthy lives
Can people with Haemophilia exercise and play sport?
Yes definitely. Some people with Haemophilia do not exercise because they think it may cause bleeds, but exercise can actually help prevent bleeds. Strong muscles help protect someone who has haemophilia from spontaneous bleeds and joint damage.
Where can people get more information on Haemophilia?
Email: firstname.lastname@example.org or access: www.novonordisk.co.za and click on Haemophilia and Bleeding Disorders or access the South African Haemophilia Foundation’s website on www.haemophilia.org.za
About the Changing Possibilities in Haemophilia Campaign.
Initiated and funded by Novo Nordisk, Changing Possibilities in Haemophilia aims to address the significant need for improving haemophilia care in the developing world where the disease is currently not a healthcare priority. The Changing Possibilities in Haemophilia Campaign’s objective is focussed on improving treatment options, providing better access to care and following up on Novo Nordisk’s commitment to understanding the needs of people with haemophilia and cooperating with partners to advance the haemophilia cause. (Health24, April 2011)