Active and bubbly Tony Thien looks like any other boy his age, except that the seven-year-old cannot join his friends in strenuous games and contact sports like soccer and basketball. This is because he cannot afford to injure himself. Unlike his playmates, Tony suffers from haemophilia, a potentially debilitating blood disorder.
While minor grazes may not cause much concern, deeper cuts or bruises could be life-threatening if the bleeding does not stop and proper medical care is not administered quickly. Even pulling a tooth at the dentist could cause excessive bleeding. Dentists need to pay extra attention to patients like Tony, who may require a special injection that aids blood clotting before a visit to the dentist.
As haemophiliacs lack essential clotting factors (a protein in the blood that helps it to clot), they bleed more easily, and for longer than is normal. Depending on which kind of clotting factor they lack, patients are diagnosed with Haemophilia A or B.
Tony has Haemophilia A, the most common form of this disorder. These patients lack a clotting factor known as factor VIII, while those with Haemophilia B lack clotting factor IX. Other congenital clotting factor deficiencies are relatively rare.
Children are usually diagnosed as suffering from haemophilia by the time they turn two, when parents notice that they bruise easily or experience prolonged bleeding. Tony, for example, was diagnosed at the age of one. One day, he fell down and his gums were just bleeding non-stop. That was when we discovered Tony had haemophilia,” said his mother.
Most haemophilia patients are male. Haemophilia A or B is an X chromosome-linked disorder and it affects mainly males because they have only one X chromosome; Haemophilia in females is rare because they have two X chromosomes, so they are usually carriers with no visible symptoms. The chance of a female with two faulty copies of the gene is very low.
Previously, haemophilia patients were treated using cryopredpitate, a frozen blood product stored in the hospital’s blood bank. This treatment method is time and labour intensive because the cryopredpitate has to be first thawed then transferred from the blood bank to the clinic. The patient has to travel to the hospital for the treatment and it can only be administered by a doctor.
This treatment method has since been replaced by the pure Factor Concentrates intravenous (IV) application, which consists of injections of clotting factor concentrates. These concentrates contain clotting factors to replenish deficient levels of a particular factor in the patient’s blood. It can be given by doctors in the hospital or by trained caregivers and parents at home. The factor concentrates is an IV treatment that stops the bleeding by forming fibrin, which acts like a cement to seal broken blood vessels.
This method is also used as a preventive, short-term treatment. The patient takes regular shots about two to three times a week over six months to a year, and can also administer the treatment before a dental visit to prevent excessive bleeding.
While patients with haemophilia need to be especially careful and avoid strenuous activities and contact sports, they can and should lead active and healthy lifestyles like any normal person. Exercises like swimming, yoga and Pilates, for example, are good for improving muscle strength, which helps to stabilise the joints.
Haemophiliacs may suffer from joint bleeding even if there is no visible bruise and the first symptom may just be a funny “tingling” sensation in the joint. Another concern is spontaneous bleeding, which is not caused by any injury or trauma. This affects patients who are especially deficient in clotting factors, and happens mostly in weight-bearing Joints like the hip, knee and ankle. For severe cases, spontaneous bleeding can happen weekly while mild cases may experience it once or twice a year. If treatment isn’t administered promptly, the blood will irritate the tissues surrounding the joints, causing inflammation and swelling which will lead to joint disease or deformity.