Haemophilia is a rare bleeding disorder in humans where the blood does not clot normally. It is usually a hereditary disorder. Generally the X chromosome is a carrier of this disorder. People born with haemophilia have very little amount of clotting factor, which is a protein that helps the blood platelets stick together whenever there is an external injury in the body. This disorder is of 2 types – A and B. While haemophilia A means having lower levels of clotting factor VIII, haemophilia B means having lower levels of clotting factor IX. Haemophilia can be mild, moderate or extreme, depending on the missing amount of clotting factor in their body. This is a disease generally occurring in males – about 1 in 5000 males are born with this disorder each year.
Symptoms of haemophilia are excessive bleeding, which can occur in the mouth from a cut or bite, or due to losing of a tooth. Severe nose bleeding for no obvious reason, heavy bleeding from a minor cut that resumes after the blood has already clotted are some of the symptoms of haemophilia. Bleeding can occur in the joints, from urine and during defecating. Internal bleeding due to haemophilia can cause bleeding in the brain, which is a severe form of this disorder. Bleeding in the brain results in long lasting and painful headaches, repeated vomiting, sleepiness, weakness or clumsiness, double vision, convulsion or seizures.
Patients of haemophilia are asked about their family history to know whether any member in the family had previously suffered from the same disorder. Certain medical tests are carried out after that, to know how long it takes to clot the blood, whether the blood has low amount of clotting factor and whether any clotting factor are missing from the blood. The test results show the level and type of haemophilia a person has.
The most common treatment for haemophilia is the replacement therapy, where concentrates of the missing clotting factors are dripped into the blood. But it is to be noted that mild haemophilia does not require this treatment. Only severe and moderate cases of haemophilia are treated with this method.
The treatment of haemophilia, as mentioned above, is done by external injection of the clotting factor which is missing or present, but in very low amounts. The clotting factor which is dripped into the blood can be made out of human blood. The blood is treated to control the spreading of other diseases like hepatitis. However, with the latest technologies of screening and preserving donated blood, this risk of having other diseases due to blood transfusion is negligible these days.
There are risks in using human blood. So some people prefer to take clotting factors that are not made from human blood. These are known as recombinant clotting factors. These clotting factors are easy to store and use at home and takes only about 15 minutes to use it.
Replacement therapy is used regularly to prevent bleeding. This is also known as preventive or prophylactic therapy. Another type of replacement therapy is called on-demand therapy, where the treatment is only done when it is required, i.e. only when there is severe bleeding, both internal and external.
Many people learn to use the therapy at home. Treatment at home is basically preferred more than treatment at a hospital. This is because people or children get quicker treatment, and people do not have to visit doctors frequently. Moreover, home treatment costs less and children tend to take responsibility of their own health more at home.
This disease that involves low amount of clotting proteins in humans can be present in any person. Since a human is born with this disorder, even a small child can face it. Therefore it is clear that there are no age barriers for this treatment. Any person, irrespective of their age is eligible to take the treatment for haemophilia.
Certain people do not have this disorder when they are born. These people acquire this disorder as they grow older and such people can start their treatment only after they get the disease. Otherwise, people who do not suffer from haemophilia are not eligible to take this treatment.
Replacement therapy can have various side effects that can make this treatment totally unsuccessful. Various infections can occur due to replacement with donated blood. Most common among these infections are Hepatitis A and Hepatitis B. Antibodies can attack the clotting factor, thus destroy them. Antibodies are the worst type of problem creators in this matter. They would not even allow the clotting factor to function after entering the blood of the affected person, thus rendering the most effective form of treating haemophilia, a complete failure. Delays of this treatment can damage the internal organs like joints and muscles. The affected joint can be totally impaired. Swelling, pain and redness can occur in the joints that are affected. If pressure is given to that joint again and again, the joint can be permanently destroyed.
It is said that if a person suffering from haemophilia gets proper treatment, then he/she is expected to get a normal life. But the affected person should follow certain rules throughout his or her life in order to lead a healthy life. Extreme dental care should be taken along with regular check-ups and vaccinations in order to stay free of infectious diseases.
A child treated with replacement therapy can suffer from emotional strains after the treatment is done. In such cases, the child is asked to visit Haemophilia Treatment Centres or HTCs where they can get mental and emotional support, which in turn would help them to deal with the problem efficiently. The children should be made aware of the disorder they are having, which would make them understand about the disorder, and make them realise that this is not their fault. Small kids suffering from haemophilia should be kept away from sharp objects, and should be provided all kinds of safety measures so that they don’t get injuries. Whenever they go out for playing, people at home should provide them with knee pads, helmets and elbow pads.
Physical activities are not totally discouraged for people with such a disorder. But people with severe haemophilia are not allowed to be athletes. Football, hockey and wrestling are to be completely avoided.
Certain medicines like Aspirin and others that contain salicylates are to be avoided by people suffering from haemophilia.
Haemophilia is mostly a genetic disease. People are born with this disorder. Therefore, this disorder is never completely cured. People have to stay under treatment throughout life. Replacement therapy has the capability of increasing the amount of clotting factor in the blood of the affected person, but can never provide the absolute amount of clotting factors that a normal healthy person has. So this treatment has to continue throughout life. Only then the affected person can lead a healthy and normal life.
The cost of replacement therapy varies from Rs. 1,95,000 to Rs. 5,52,500 in India according to the level of severity of the disorder in the patient.
The problem of haemophilia can be reduced in a person who is suffering from it, but can never be fully cured. Treatment can help them lead a normal life. Treatment can help them to clot their blood quickly. But the replacement therapy can never help them to be absolutely free from this disorder. Therefore, the patients are asked to be under a doctor’s guidance as long as they live.
Other alternative methods of treating haemophilia include treatment by Desmopressin, Antifibrinolytic medicines, and treatment of a specific bleeding site. Desmopressin is a man-made hormone that stimulates the release of clotting factor VIII as well as increases the level of these proteins in the blood. Antifibrinolytic medicines are taken in the form of pills that help the blood to clot, especially during gum bleeding. Certain pain killers, steroids and physical therapy may be used to clot the blood, especially when there is bleeding in the joints.