A baby learning to crawl falls down and bruises himself extensively. A young boy playing football gets injured and his joints become inflamed and he bleeds abnormally. A teenager has his tooth extracted and experiences prolonged bleeding.
Such episodes can be frightening for those who experience it, as well as for their caregivers, especially if they do not understand the bleeding disorder known as haemophilia.
At present, there is no cure for this genetic condition. However, with proper diagnosis, treatment and care, haemophiliacs can lead full and healthy lives. It is vital for them to learn how to stay as healthy as possible.
"According to the World Federation of Haemophilia, approximately 400,000 people around the world have haemophilia but only 25 per cent of patients are currently receiving adequate treatment. In Asia, this rate is even lower, meaning that an alarmingly large percentage of patients do not have access to proper treatment and diagnosis facilities that can enable them to lead relatively normal lives. These patients may be undiagnosed and untreated, leading to their premature death before reaching adulthood," states the press release from Bayer Healthcare, co-host of the recent 3rd Asia Pacific Haemophilia Camp, together with the Taiwan Haemophilia Society. The four-day camp was held in Hsinchu county, Taiwan.
The camp had a good mix of talks, practical workshops, dialogue forums, games, fun physical activities and get-to-know-you sessions.
It was attended by more than 100 participants - including haemophiliacs and their caregivers, doctors and nurses - from Malaysia, Indonesia, Thailand, Taiwan and China.
National Blood Centre
In Malaysia, about 1,100 haemophiliacs are registered under the Haemorrhagic Disorder Registry with the National Blood Centre in Kuala Lumpur. The actual number of people with haemophilia is thought to be much higher.
The National Blood Centre is established as the country's centre of excellence for the management of haemophilia and an international haemophilia training centre. It provides free treatment and medication to haemophilia patients.
The centre has representatives in government hospitals nationwide. Private hospitals refer their haemophilia patients to the centre.
Haemophilia is a lifelong blood-clotting disorder that affects males - one in every 5,000 boys - while the carriers are females. It can also occur in homozygous females (ie affected father and carrier mother), though this occurs rarely.
For a person with this genetic disorder, the blood lacks one of the proteins needed to enable clotting.
There are two types of haemophilia:
- Haemophilia A (classical haemophilia) - there is little or no clotting Factor Eight (VIII).
- Haemophilia B (Christmas disease, named after Stephen Christmas, the first person diagnosed with Haemophilia B) - there is little or no clotting Factor Nine (IX).
Haemophilia A is more common than Haemophilia B.
This medical condition is passed down from parent to child as an X-chromosome-linked recessive trait.
- If the father has haemophilia but the mother does not, none of the sons will have haemophilia. All the daughters will carry the haemophilia gene, although they are not affected by the disease.
- Women who are carriers of haemophilia can pass the gene on to their children. When the mother is a carrier and the father is not, each son has a 50 per cent chance of getting haemophilia, and each daughter has a 50 per cent chance of being a carrier.
Norhana Hussain, honorary secretary of the Haemophilia Society of Malaysia, and her sister, Norhaliza Hussain, are both carriers. And they both have sons who have haemophilia. "My twin boys aged 22, and my youngest son, five, have haemophilia A," says Norhana in an interview at the camp.
"My sister's 13-year-old son, Mohd Hazim Qayyum Hishamullah, has mild haemophilia B," she adds.
It is also possible for gene mutation to occur spontaneously, that is, a person getting haemophilia although there is no known family history of this disorder. This is known as sporadic mutation, and occurs in 30 per cent of cases.
"There's also acquired haemophilia, in adults who have other medical conditions such as diabetes, in which their immune system is compromised," says Dr Novie Amelia Chozie, a paediatrician with Cipto Mangunkusumo Hospital in Jakarta and a member of the Indonesia Haemophilia Society in a separate interview at the camp.
Families with a history of haemophilia may opt to go for pre-natal screening.
"Pre-natal diagnosis, which is quite invasive but safe, is carried out in two ways: sampling of the amniotic fluid, in the 12th to the 16th week of pregnancy, or a biopsy of the chorionic villi in the placenta, at eight to 10 weeks," explains Dr Novie.
Those with a family history of the disorder are, of course, more well prepared.
"Bleeding risk in the first year is quite low because the baby doesn't do much - he is picked up, fed, put down. However, when the baby starts learning to crawl, it is quite traumatic for the parents, particularly in a family with no history of the disorder, to discover the reason for their baby's bruises," says Brian "BJ" Ramsay, a haematology specialist nurse from New Zealand, in another interview.
"The family should work closely with the haemophilia centre," he said. "A good centre will have a multi-disciplinary team including a haematologist (for diagnosis and treatment) and a specialist nurse (to look after the psycho-social aspects, such as training the parents to inject their child with factor concentrate)."
"I feel discomfort, joint pain and swelling, especially in the ankle. I feel irritable when this happens," says haemophilia patient Lam Weng Hong, 13. He was accompanied by his mother, Wong Mun Kee, to the camp.
Wong lost her elder son to haemophilia when he was just five years old. He had fallen down, suffered bleeding and subsequently, passed away. If he had survived, he would be 21 years old today.
The primary signs of haemophilia are:
- Bleeding in the muscle, soft tissue, internal organs or joints (especially the knee, elbow and ankle). The accumulation of blood in the affected area is known as a haematoma.
- Swollen, inflamed, stiff, weak, painful or deformed joints.
- Prolonged bleeding after a cut, injection, tooth extraction, surgery or an accident.
- Blood in the urine (haematuria) or stools.
- Frequent and hard-to-stop nosebleeds.
- Severe internal bleeding into vital organs, especially after a serious trauma.
- In infants, bleeding after circumcision, or bleeding in the head after a difficult delivery.
Most carriers do not experience bleeding symptoms, but some do. For women who are symptomatic carriers, the signs are:
- Heavy or prolonged menstrual bleeding (menorrhagia).
- Bleeding for a long time following childbirth.
- Bleeding for a long time after surgery or minor trauma.
The treatment of haemophilia has advanced significantly over the past decades. Original therapies for Haemophilia A provided Factor Eight replacement through whole blood and plasma. These were only partially effective, required hospitalisation, and led to blood-borne pathogen transmission.
These days, there are treatments using anti-haemophilic factor (Recombinant Factor VIII, or rFVIII) which are safe and effective. The recombinant is a biological product that is delivered intravenously. It helps those with Haemophilia A to prevent and control bleeding episodes.
Anti-haemophilic factor (Recombinant) has been safely used to clinically treat haemophilia A for over 18 years.
According to Ramsay, the worst problem that could occur when treating haemophilia is the presence of inhibitors. "It's when the body produces antibodies that fight against the factor (in the treatment)," he says.
In a three-and-a-half year international clinical study of previously untreated and minimally treated patients, only a 15% incidence of inhibitor formation was shown by anti-haemophilic factor (Recombinant). The published rate for other rFVIII products is about 30%.
The most common side-effects are local injection site reactions, dizziness, and rash. Known intolerance or allergic reactions to constituents of the preparation is a contraindication to the use of anti-haemophilic factor (Recombinant).
Frequency of treatment
Treatments may be administered in a few ways:
- On-demand: Anti-haemophilic factor (Recombinant) is infused into the patient as and when necessary, after incidents occur, to control a bleed.
Nowadays, haemophiliacs can treat most bleeding episodes at home through self-infusion.
Patient Weng Hong used to go to the National Blood Bank for on-demand injections until last December, when he started self-infusion. It is a skill that can be learnt.
"Self-injection takes about 20 minutes. One needs to learn the technique of doing it well," says haemophilia patient Lin Hsu-Ke, who is also the chairman of the Taiwan Haemophilia Society.
In a workshop at the camp, Ramsay demonstrated how to do self-infusion. He advocates that a patient start self-infusion when he enters secondary school, a time when he becomes more independent and starts going away on more trips or camps.
- As routine prophylaxis: Anti-haemophilic factor (Recombinant) is used on an ongoing basis to prevent bleeding. This can help reduce or prevent joint damage. This translates to reduced frequency of bleeding, shorter hospital stays and fewer haemophilia-related surgical procedures.
- As short-term prophylaxis: For adults with joint deformities.
In his talk at the camp, Dr Kang Jiunn-Horng of Taipei Medical University Hospital advised patients to "warm up before exercise, avoid high-impact exercise, avoid prolonged weight-bearing exercise (which affects the knees), and to wear proper shoes/ adequate protective brace when exercising."
He also said that joints should be checked regularly, and that haemophiliacs ought to maintain joint flexibility and strength through appropriate exercises.
"See a doctor if there is acute joint swelling, and learn to care for joints following an injury."
Patients are discouraged from body-contact sports such as football, and are instead encouraged to take up swimming and cycling. "Start off with low-intensity exercises, then gradually increase the intensity," he said.
Dr Kang was one of several key speakers at the camp who shared valuable insights about managing haemophilia.
Throughout the camp, the participants realised that they are not alone in facing haemophilia and that the condition need not be a barrier to living a normal, healthy and productive life.
They also learned that the haemophilia societies in their home countries are striving to raise awareness of the condition and to improve the standard of haemophilia care.