Haemophilia is a chronic bleeding disorder that affects very few people. With modern treatment, a child with haemophilia can live a full life.
Bumps and bruises are a natural part of growing up. However, you should be concerned if your child bruises very easily, bleeds spontaneously in soft tissue or from the mouth, or displays symptoms of bleeding into their joints, as there is a chance they could have haemophilia.
What is it?
Nerissa D’Alton’s son Ezra, now 16 months old, was diagnosed with the condition a few days after birth, when he was circumcised and the wound would not stop bleeding. “It has been a difficult journey for the entire family. We have had to learn a lot about this condition and have become ‘experts’ in a very short time,” says Nerissa.
Diagnosed with a blood test, haemophilia is a rare disorder that affects the protein or factor in blood that enables it to clot. Haemophilia mostly affects boys. Usually inherited, it is carried by the female. In some cases, however, it can arise spontaneously through genetic mutation, or develop after a period of “normal” factor levels. For blood to clot properly, you need at least 30 percent of the clotting factor.
How rare is rare?
Bradley Rayner, who has severe haemophilia, is the national chair of the South African Haemophilia Foundation. He explains that the most common form is haemophilia A, in which clotting factor VIII is deficient. In haemophilia B, clotting factor IX is deficient. He says there are also some other, much rarer clotting disorders, which are affected by factors.
According to Dr Johan Potgieter, a pathologist in Pretoria, the prevalence of haemophilia A is 1 per 10 000 of the general population. “In South Africa, an estimated 2 000 people with haemophilia have been diagnosed, but, at least 5 000 are suspected to suffer from this condition,” he explains. “Haemophilia is considered to be an ‘orphan’ disease, a condition that affects very few people. There are varying degrees of the condition, from severe to moderate or mild according to the levels of circulating factor VIII or IX. Severely affected patients bleed more frequently and also spontaneously.”
Complications and treatment options
“The risk of muscular or joint bleeds with haemophilia A or B sufferers is high and can cause permanent damage. It can affect the way a person sits, stands and walks,” he says.
Coagulation factor infusions
“Infants and children with mild haemophilia must rely on a haemophilia treatment centre or other medical facility for coagulation factor infusions. Parents of children with severe haemophilia are usually trained in home infusion when their child is about four years old. Self-infusion is normally accomplished by 12 to 14 years of age. Bleeding patterns differ. Infants usually bleed into soft tissues or from the mouth. As they get older, characteristic joint bleeding becomes more common.”
Replacement therapy is the mainstay of haemophilia treatment. It involves the intravenous administration or infusion of plasma-derived or recombinant concentrates to replace the missing or defective clotting factor. The clotting factor can be administered when a bleed occurs to arrest it or as prophylaxis to prevent bleeds. Regrettably, some sufferers develop antibodies against the factor concentrates given to them. If this happens, the amount of the clotting factor concentrate has to be increased. Alternatively, very costly bypassing agents need to be used instead. Nerissa says: “My husband Steve takes Ezra to the haemophilia clinic once a week. It is very traumatic for both of them. Finding a vein in a chubby baby is not easy, and Ezra struggles a lot. We have recently had a port inserted, which means we will be able to inject him directly and we can do this at home.”
No cure, but research is ongoing
Currently, there is no cure for haemophilia, but research is ongoing. Treatment has improved markedly over the past 20 years, to the point where a haemophiliac’s life expectancy is now approaching that of the average population, provided they receive adequate, appropriate treatment.
Living with the condition
Rayner’s sister, Janine Buxey, says: “When I discovered I was pregnant with a boy, I had myself tested because we have the haemophilia gene in the family. I was found to be a carrier. Daniel was tested immediately after birth and diagnosed with severe haemophilia. “He also had a lung infection and was on a ventilator. When they pulled the tube out they hurt him and he had to receive coagulation factor for the first time.
“When he started crawling, I made a huge playpen in the lounge with padding and couches so that he could not move anywhere where he could get hurt. We even padded the pram. He had a little helmet with foam to assist with all the falling down and knocks. When he sat on his toys or fell to hard, he had lots of bleeds on his buttocks, so, we had to pad that part of his body as well. We also custom-made his knee, shin and elbow pads –the bought ones seem to hurt him. Over the last 23 months, Daniel has received about 27 treatments. This was due to many bruises and swelling to his legs, arms, buttocks, toes and his genital area.”
Tough on the sporty child
Diagnosed at the age of one, Judy Butler’s son, Mark (now 45 years old) is a haemophiliac. His haemophilia is thought to be a genetic mutation. “Growing up, school was a challenge as there is great emphasis in South Africa on sport and people with haemophilia avoid playing contact sport,” says Judy. “We tried to encourage Mark to join the chess club, the shooting team and so on, and he was fortunate to have a wonderful group of friends who supported him through high school and beyond. Mark is on home therapy so he treats himself whenever he has a bleed. He lives a full and normal life.”
Life with a child who has haemophilia
- Learn as much as you can about the condition. Contact the South African Haemophilia Foundation, or follow the Haemophilia South Africa Facebook page.
- Baby- and childproofing, and adult supervision go a long way in limiting injury.
- Apply ice to the bruise as it has an analgesic effect and reduces the blood volume to the affected area.
- Rest the affected joint or limb as movement soon after a bleed will easily drive blood to the smooth cartilage covering the bone ends, causing damage.
- Make sure that the affected joint and muscle are back to full function and range of movement after each bleeding episode and seek advice from a physiotherapist when in doubt.
- Do not give aspirin as it impairs platelet function, which may compound the bleeding.
- Encourage your child to do balancing exercises with programmes designed by a qualified physiotherapist, as good balance reduces the risk of an injury from a fall.
- Talk to your physiotherapist about which sporting activities are regarded as “low risk” for haemophilia sufferers.
Where to find help
For haemophilia centres in your area, visit the South African Haemophilia Foundation.