Haemophilia is an uncommon blood disorder that prevents the blood from clotting properly so sufferers bleed uncontrollably when they cut or injure themselves. In serious cases patients may even experience spontaneous internal bleeding. It is a disease that is inherited or, in other words, it is passed down through families. Thankfully it can be successfully treated today and parents are advised to recognise signs of the disease so that their children can benefit from early medical treatment if they suffer from the disease.
At the Government Employees Medical Scheme (GEMS) we encourage our members to take control of their family's health and deal with any potential health problems such as haemophilia so that these can be effectively treated. World Haemophilia Week is on 17 March 2013 and is celebrated every year to increase awareness of this disease.
A blood disorder found in males
Haemophilia is an uncommon disorder affecting approximately 1 in 10 000 people. It affects individuals from all races and backgrounds. Haemophiliac sufferers are almost always male and it is exceptionally rare for females to be affected by the medical condition.
Cases of the disease may range from mild to severe. The severity of the haemophilia depends upon the ability of the patient's blood to clot. In mild cases the individual may only bleed heavily following a cut or other injury while in severe cases he or she will likely suffer spontaneous internal bleeding.
Carrying the gene
The condition is ‘carried' almost exclusively through women through a defective gene that may be inherited from either parent or it may be the result of a mutation. Sons of women who are carriers of haemophilia will have a 50% chance of being born with the condition. On the other hand, daughters of a carrier will have a 50% chance of becoming a carrier of the disorder themselves. One of history's most famous carriers of haemophilia was the British Queen Victoria who reigned on the English throne between 1837 and 1901.
Bleeding and bruising
GEMS member Senzo Makoti, whose name has been changed to protect his privacy, noticed that his five-year-old son Rudy bruised easily and bled a great deal when he injured himself. Senzo says that he became very concerned when on one summer's day in 2011 his little boy fell and scraped his knee on the driveway and would just not stop bleeding. Realising that something was wrong, Senzo decided to take Rudy to his GEMS network doctor. It was a good thing too, because, after further investigation by a blood specialist, it was discovered that Rudy was suffering from haemophilia.
The specialist explained that Rudy had a moderate to more severe form of the disease and there were signs that he had suffered some bleeding in his joints. This commonly occurs in more severe cases of the disease. Excessive and repeated bleeding into the joints can cause these to become deformed and, without treatment, this can result in patients becoming disabled. Because Rudy's condition was discovered at a young age he was able to receive early preventative treatment and is doing very well.
Different types
There are two main types of haemophilia. Haemophilia A is the most common and makes up approximately 80% of all cases and is the form of the disease that Rudy suffers from. Haemophilia B makes up most of the other 20% of cases. Both types are caused by a low level or absence of one of the proteins in the blood (called factors) that control bleeding. Hemophilia A is caused by a deficiency of factor VIII, and hemophilia B is caused by a deficiency of factor IX.
A treatable medical condition
Haemophilia A is treated in two main ways: through on-demand treatment and/or prophylaxis. On-demand treatment involves treating the bleeding in a patient when it occurs while prophylaxis aims to prevent bleeding from occurring in the first place. The type of treatment used completely depends upon the kind of disease present and its severity. Individuals who are on prophylaxis may also require on-demand treatment if necessary.
Like most other more severe cases of haemophilia, Rudy benefits from prophylaxis treatment and the results have been excellent. He has suffered no further internal bleeding and, aside from having to avoid certain physical sports, such as football, and drugs that can cause bleeding like aspirin and nonsteroidal anti-inflammatories, Rudy is living a largely normal life, according to his father.
Both forms of treatment for haemophilia involve the use of infusions. Factor VIII or Factor IX infusions are used to treat deficiencies of these factors in the blood of patients. The infusions are given intravenously (via injection or drip) and they help to prevent haemophiliacs from bleeding. These infusions are most often derived from the blood of donors although an artificial form has also been developed. Rudy has to receive his infusions three times a week.
How to recognise it
Haemophilia is not always easy to diagnose in less severe cases, particularly as it may only result in the affected child bleeding a little more than usual. However, parents should be on the look out for excessive bleeding after cuts and grazes that is difficult to stop, and for large bruises from minor bumps.
Get advice
Haemophilia cannot be healed but advances in medical science in recent years have made it a treatable medical condition, even in the more severe cases. Those who suffer from haemophilia should understand that while they may have to avoid certain physical activities like Rudy does, the disorder does not mean that they will not be able to live normal, active lives. GEMS therefore encourages any parents who may be concerned that their baby or child has haemophilia to seek advice from their healthcare practitioner.
References
MedicineNet.com: http://www.medicinenet.com/hemophilia/article.htm
Medical News Today: http://www.medicalnewstoday.com/info/hemophilia/
South African Haemophilia Foundation: http://www.medicinenet.com/hemophilia/article.htm
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