Hemophilia is caused by a deficiency of Factor VIII in the blood. Once it was believed they were the same disorder, but more recent research has brought to light the fine difference. But symptoms and treatment are similar. In mild cases bleeding occurs only after surgical interference, such as the removal of tonsils or extraction of teeth. Otherwise these people may live relatively normal lives.
But at the other end of the spectrum, someone severely affected may have an unhappy existence of virtual invalidism, with spontaneous bleeding occurring within the body. The patient has simply no protection from trauma or physiological stress, and the clotting mechanism is severely affected.
Hemophilia occurs about once in each 10,000 of the population, five times as common as Christmas disease. About 50 per cent are severe. It may affect any national group. Both diseases are inherited as a “sex-linked recessive.” “All the daughters of an affected man will be transmitters, and all his sons will be unaffected, and there is a 50 per cent chance that the daughters of a transmitter female will in turn be transmitters,” says one authority.
From a practical point of view, it is essential to remember that the daughters of a hemophiliac male will all be transmitters, but it is difficult to be certain that the daughters’ daughters will be.
When the condition is severe, symptoms are present almost from birth. Bleeding may occur from the umbilical cord after it has been cut or from circumcision if this procedure is undertaken (and fortunately, in these enlightened days, it is being done less often).
More probably, the abnormality will occur a little later on, when the child starts to crawl, bumping itself or otherwise producing trauma in the form of cut lips, forehead or bitten tongue. Bleeding will take place, and excessive bruising occurs. Bleeding into joints, particularly the knees and ankles may occur when walking starts.
When the first teeth are lost, excessive and persistent bleeding may take place. Blood may also be found in the urine, and nosebleeds may be common. These may continue for days and extend into weeks with a slow oozing.
Operations, more commonly teeth extractions and the removal of tonsils (also much rarer today), may be followed by prolonged bleeding. The original wound may heal, but the ooze commences hours later and persists for many days. This may extend to weeks.
Bleeding into joints may cause damage to these structures, with erosion of the normally smooth surfaces. Chronic osteoarthritis may occur, as new hone is laid down in an effort to heal the damage. Sometimes bleeding may be excessive. In older hemophiliacs, sudden bleeding into the brain may prove fatal. If bleeding occurs in the neck it may obstruct normal breathing and endanger life. If bleeding occurs in the kidneys, it may cause permanent kidney damage.
Anemia may result from the persistent blood loss with the symptoms that are produced by that deficiency disorder. Usually the doctor will have blood tests and laboratory checks carried out, and the diagnosis can be pinpointed accurately. It will also indicate the degree. A severe case will have only about 1 per cent of the relevant blood Factor present, and will exhibit severe symptoms. Milder cases may have from 20 to 30 per cent of the blood Factor present, and may only show symptoms under unusual circumstances, such as teeth extractions.
At present there is no cure for these bleeding diseases. Every effort must be made to prevent circumstances that may lead to bleeding. Special treatment must be available if surgery is necessary, as well as full supportive measures. Fortunately, with increasing years, many tend to bleed less spontaneously Injections must be avoided, and medication (if required) given by alternative routes if possible. It is more difficult to stop hemorrhage once it has started than to prevent it in the first place. The patient must be made acutely aware of this, and so must surgeons called in to operate.
If surgery is necessary, it is possible to infuse the patient with Factor VIII. It can be calculated how much will be needed and for how long. There are now several ways of administering Factor VIII, and the best method available at any given time will be used. The national cost for all this is considerable, and recently has been the subject of much critical examination, particularly in the light of the economic plight of some Western nations.
Hemophiliacs must be instructed exactly how to care for themselves, and they (and parents, if a child) must also know what to do in the event of an injury. They must be schooled in how to avoid injury at all costs, particularly in severe instances. Basically, with injury, administration of Factor VIII as soon as possible is the essence of therapy. Many hemophiliacs now receive concentrated Factor VIII on a regular basis, and this gives them a much more normal lifestyle. However, the sad part of the story is that many became infected with HIV, the virus causing AIDS, and are now victims of this irreversible and fatal disease. As Factor VIII comes from pooled sources of human blood from many donors, it was some time after the AIDS epidemic commenced that suitable screening methods became available for detecting infected blood. During that time the infections took place. Now all blood is carefully screened for HIV, and it is believed new candidates requiring treatment arc safe from HIV infection, and hence should not acquire AIDS. The overall number infected is very small compared to the high numbers of AIDS sufferers in the community at large, where the problem is still a major one.
A note of special caution is that “aspirin and compounds that contain it should be avoided, because of the increased risk of hemorrhage, particularly into the alimentary tract,” says an eminent authority.
The hemophiliac must undergo a degree of limited activity, but this relates to the degree of severity. In other words, it depends on how low his Factor VIII is. The lower it is, the greater are the risks. Removal of teeth is perhaps the greatest single traumatizing feature that he will undergo. This should always be done by a dental surgeon skilled in handling such patients. Fillings may be undertaken, but local anesthetics are placed on the gums and not given by injection. Extractions must be done in hospital, and Factor VIII given both before and possibly for a week afterwards until complete healing has occurred. Once more the amount will be governed by individual levels.
In Christmas disease, the symptoms and treatment are identical, except that Factor IX will be given instead of Factor VIII. The chief disadvantage at present is that concentrates of this are either scarce or unobtainable in many areas, and this complicates the problem. It means that fresh frozen plasma is used, and this is not nearly as suitable as concentrated forms. But it is far better than nothing. There are usually very few places in any country where major surgery may be safely undertaken.
In fact, over the past few years a tremendous amount of research has taken place, and hemophilia and associated bleeding diseases (Christmas disease and others) can now be treated quite effectively. Diagnosis and treatment are best under the supervision of a large hospital equipped with the facilities to both diagnose and treat the condition. The patient is transfused with special fluids containing the missing factors. In this way, many are able to live a relatively normal life.
There must be precautions against injury. Most are aware of the problems and keep in close contact with their medical advisers, and the hospital with which they are connected.
Sad to say, a large number of patients receiving regular transfusion of blood products to treat their condition have actually acquired AIDS. The serum they use comes from large amounts of pooled donor blood. Before tests became An AIDS virus emerges from a stricken T lymphocyte, a white blood cell of the immune system readily available for detecting the AIDS virus in the blood, in many cases the germ, called the HIV, was unknowingly transferred to the patient. This did not become apparent until some time later when it was too late to do anything practical about it.
There are now extremely sensitive tests to which all blood and blood products for human use are subjected. Any that is HIV positive is discarded. Blood products are also treated to prevent any cases from slipping through. A person starting treatment for the first time for hemophilia today is assured to be well protected against AIDS from this source.