by Dr. S. Y. Chong
Haemophilia is an inherited condition that affects the blood's ability to clot. Under normal circumstances, when a person experiences a cut, clotting factors or proteins in the blood combine with platelets (blood cells) to form a stable blood clot. However, in the case of haemophilia, there are not as many clotting factors in the blood as there should be, so a person who has this condition will bleed for a longer time than usual.
Haemophilia has featured prominently in European royalty and is sometimes known as the 'royal disease'. Queen Victoria passed this genetic trait to her son Leopold and to various royals across the continent through several of her daughters.
Perhaps the most prominent people with haemophilia were the Russian royal family at the turn of the 20th century. Tsarevich Alexei Nikolaevich (son of Nicholas II) who suffered from haemophilia, was a descendant of Queen Victoria through his mother Empress Alexandra.
It was claimed that Rasputin was successful in treating the Tsarevich's haemophilia. At the time, aspirin was a common treatment administered by doctors, however if taken by people with hemophilia, aspirin's blood thinning effect would compound their condition. It is believed that by advising against this treatment, Rasputin brought visible and significant improvement to Alexei's condition.
How Common Is It?
Haemophilia is a rare disease, affecting one in 10,000 births. The commonest type of haemophilia is Haemophilia A, where there is not enough clotting factor VIII (8). A less common type is Haemophilia B, where there is not enough clotting factor IX (9). In Malaysia, there are about 1,147 people with haemophilia registered with the national registry.
All males have an X and a Y chromosome. Females have two X chromosomes. The gene for haemophilia is carried on the X chromosome. A son will inherit the Y chromosome from his father and the X chromosome from his mother. A daughter will inherit an X chromosome from each of their parents.
With reference to the diagram, women who have the haemophilia gene are called carriers. They sometimes show signs of mild haemophilia and they can pass it on to their children. For each child, there is a 50% chance that the son will have haemophilia and a 50% chance that the daughter will carry the gene.
If a male has haemophilia and his wife is normal, all his daughters will be carriers but his son will not be affected as he only receives the Y chromosome from the father and the haemophilia gene is only carried on the X chromosome.
The symptoms of haemophilia can range in severity, depending on the degree of clotting factor activity. If haemophilia is suspected, a blood test can be performed to confirm the diagnosis.
The blood test will determine how long it takes for the blood to clot, whether the blood has low levels of any of the clotting factors, and whether one of the factors is completely missing from the blood.
Those with mild haemophilia (5%-30% clotting factor) may not have any signs at birth, and often only come to know of the condition when they encounter prolonged bleeding from dental procedures, severe trauma, or surgery.
In people with severe haemophilia (<1% clotting factor), bleeding can occur spontaneously even if there has been no trauma. These bleeds occur commonly into the elbow, knee, and ankle joints.
The person will experience an aching feeling, swelling, pain, and stiffness in the affected joint and reduced ability to use the joint. These bleeds can occur as often as once a week.
The most dangerous bleeds can occur inside the skull, which is a medical emergency and requires immediate treatment. Symptoms include severe headache, blurred vision, stiff neck, vomiting, confusion, loss of balance or coordination, and even paralysis.
How is Haemophilia Treated?
For people with severe haemophilia, joint bleeds and bleeding inside the skull need to be treated with the deficient clotting factor to stop the prolonged bleeding.
It is essential to treat joint bleeds as soon as they occur as repeated and prolonged bleeding will cause damage to the cartilage of the joints, which can lead to chronic, permanent disability.
It is also important for people with haemophilia to do regular joint strengthening exercises to help prevent joint problems and spontaneous bleeds. It is best to consult a doctor on exercises and sporting activities suitable for a person with haemophilia. Body contact sports such as hockey and boxing should be avoided as they have a high rate of injuries compared to other sporting activities such as swimming.
Although there is no cure for haemophilia, it can be controlled with regular infusions of the deficient clotting factor. Factor replacement can be either isolated from human blood serum, recombinant, or a combination of the two.
Recombinant clotting factors, as opposed to human blood serum-derived counterparts, have a very low risk for transmission of infectious agents and their use will eradicate the threat of infection.
Some people with haemophilia develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products may be given. If replacement coagulation factor becomes ineffective as a result of circulating inhibitors, this may be partially overcome with recombinant human factor VII.
For people with haemophilia, clotting factor treatment should be given before any surgery or activity that can cause bleeding. They should also avoid medication such as aspirin, warfarin, or heparin, which prolong bleeding time.
The life expectancy of someone with haemophilia varies depending on whether they receive proper treatment. Without adequate treatment, many people with haemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with haemophilia is about 10 years less than that of males without haemophilia, and children can look forward to a normal life expectancy.
In Malaysia, haemophilia awareness and access to treatment has advanced over the years. Today, most people with haemophilia have ready access to treatment through the National Blood Centre and can enjoy a relatively normal, active lifestyle, as well as better quality of life and life expectancy.
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9:10 PM Haemophilia