Hemophilia, popularly known as hemophilia, is a hereditary disease that affects the function of blood clotting. In addition to preventive measures, permanent therapies are available in severe cases.
What is hemophilia (bleeding disorder)?
Hemophilia or hemophilia is a disease in which blood clotting is impaired. This means that blood that comes out of a sufferer’s wound when he or she is injured either clots very slowly or not at all. There are two variants of hemophilia; hemophilia A and hemophilia B. Hemophilia B is the rarer of the two disorders; approximately 85% of those affected have hemophilia A. Although hemophilia A and hemophilia B differ little in their symptoms, the clotting factors involved in the two forms of hemophilia are different. In hemophilia A, clotting factor VIII is affected, in hemophilia B, factor XI. In Germany, approximately one in 10,000 people is affected by hemophilia. Hemophilia is thus one of the most common hereditary diseases.
Causes
Hemophilia is transmitted by the sex chromosome X. Because women have two X chromosomes, they can transmit hemophilia without having the disease themselves if they have a second healthy X chromosome; this is because hemophilia is inherited recessively. This means that a disease only occurs if there is no second X chromosome that is intact. Since men have only a single X chromosome in addition to a Y chromosome, they will develop hemophilia if a non-intact X chromosome is transmitted to them. This is also one reason why women are less often affected by hemophilia than men.
Symptoms, complaints, and signs
The main symptom of hemophilia in general is an increased tendency to bleed, which usually becomes apparent in childhood. Bleeding is also more severe during surgery than in healthy people. Another sign is that bleeding is difficult to stop once the affected person has been injured. Hemophilia in childhood can often be recognized by the increased tendency to bruise. Even minor injuries can cause severe bleeding into the tissues and joints, which can cause severe pain and, if not treated properly, can deform the affected joints. Cuts and abrasions do not pose any major problems, because superficial wounds close just as quickly in hemophiliacs as in healthy people. There is a particular risk with bleeding in the area of the head and internal organs. A typical sign of hemophilia can be bleeding that initially stops and then starts bleeding again after several hours or days. Mild hemophilia causes few symptoms because spontaneous bleeding rarely occurs. In moderate hemophilia, even minor injuries can cause severe bleeding, and in severe hemophilia, spontaneous bleeding can occur for no apparent reason, bleeding into the joints and causing the typical joint pain (hemarthrosis).
Diagnosis and course
Symptoms of hemophilia are frequent bleeding in affected individuals. The tendency to bleed varies from patient to patient; this is mainly related to the degree of deficiency of clotting factors in the individual. In most cases, people with hemophilia start bleeding before the age of one. The first sign of hemophilia can be frequent and severe bruising. As a rule, abrasions or small cuts are no more dangerous for people suffering from hemophilia than for healthy people, because the closure of such superficial injuries is intact in patients with the disease (however, injuries to the head or base of the tongue are dangerous). Hemophilia usually runs a constant course. This means that there is usually neither improvement nor deterioration over the course of a lifetime.
Complications
As a result of hemophilia, affected individuals suffer increased bleeding. These occur even with very small and simple injuries and can thus significantly reduce the patient’s quality of life. Likewise, it is not uncommon for bruising and blood clotting disorders to occur. This disorder makes it difficult to stop bleeding, which can lead to life-threatening emergencies in the event of accidents or major injuries.As a rule, the affected person is restricted in his everyday life by the hemophilia and must watch out for and avoid certain risks. Mostly the patient suffers from hemophilia since birth and there is no spontaneous healing, improvement or worsening of the disease. If there is no special bleeding or big injuries, the life expectancy is also not reduced by this disease. As a rule, treatment takes place with the help of medications. The affected person can also inject these himself, in order to be able to stop bleeding on his own if necessary. Since there is no causal treatment for hemophilia, lifelong therapy is required. Furthermore, there are no further complications.
When should you see a doctor?
If bleeding occurs repeatedly and cannot be stopped by the use of patches and other aids, there may be underlying hemophilia. A doctor must be consulted if bleeding becomes more frequent and is associated with pain or blood clotting problems. If accompanying bruising is noticed, medical advice is required in any case. This is especially true in the case of sudden bleeding and effusions that cannot be attributed to any particular cause. If bleeding occurs even with minor abrasions or cuts, it is most likely hemophilia. Since it is a genetic disorder, no preventive measures can be taken. Parents who suffer from hemophilia themselves should have their child examined at an early stage. If circulatory problems, palpitations and other complaints occur as a result of bleeding, the emergency services must be called. In case of circulatory collapse, first aid measures must be taken until medical help arrives. Children should be taken to a pediatrician if bleeding recurs.
Treatment and therapy
Currently, hemophilia has no cure. Treatment for hemophilia depends, among other things, on the severity of the disease. If a person is affected by severe hemophilia, one therapy may involve intravenous administration of needed clotting factors. Appropriate clotting factors administered for hemophilia can either be obtained from donor blood or produced by genetic engineering. If children suffer from severe hemophilia, in some cases they are given clotting factors at regular intervals. This may be about two to three times a week. If a patient’s hemophilia is less severe, an alternative to continuous therapy may be on-demand treatment. In this case, the administration of clotting factors is based on need. Such a need would exist, for example, in the case of acute bleeding or in the run-up to a necessary operation. In the case of young children suffering from hemophilia, for example, clotting factors are usually administered initially by a physician. It is possible for affected parents to learn how to inject themselves so that they can then carry out the administration independently at home.
Prevention
If a person is affected by hemophilia, he or she can prevent symptoms (bleeding) primarily by engaging in low-risk behavior. For example, recreational activities with a high risk of injury can be avoided. People suffering from hemophilia also usually carry an emergency ID card that provides information about the doctor treating them. Caution is also advised for sufferers when taking various medications, as these can additionally inhibit the clotting of the blood.
Aftercare
For those who suffer from hemophilia, prevention, treatment and aftercare go directly into one another. In any case, it is wise to be cautious about everyday activities to avoid bleeding. A sport with an increased risk of injury is therefore not very advisable. However, less dangerous sports and travel are generally not a problem. Those affected should always have their emergency ID card with them. This contains all the important information in an emergency situation. In some cases, certain precautions apply to sufferers when taking certain medications that may have an influence on blood clotting. Whether the patient is an adult or younger, to be on the safe side, family members, friends and colleagues should be informed about the hemophilia.If an injury should occur, those present know what they need to pay particular attention to. Where a plaster is sufficient for healthy people, hemophiliacs need a firm pressure bandage. Those affected should keep their hemophilia identification card up to date and always take it with them. Medications for better clotting should also always be at hand. There is another option for parents of children with the disease: they can be instructed in the proper procedure for injecting clotting factors and administer them themselves.
Here’s what you can do yourself
Nowadays, affected individuals can lead a largely normal life despite having hemophilia if some precautions are followed. Family members, as well as work colleagues, friends and teachers, should be fully informed about the disease and know about the possible consequences of major injuries. It is also important that the hemophilia identification card is always up to date and handy – medication prescribed by the doctor or clotting factors to be used if necessary should also always be to hand. If minor bleeding is treated quickly with a pressure bandage, no further measures are often necessary: However, particularly in the case of injuries to the head or abdomen, the affected person should be closely monitored due to the risk of internal bleeding and a doctor should be consulted if necessary. Operations in the mouth area can cause major bleeding in hemophilia, so hemophiliacs should attach great importance to careful dental care and regular visits to the dentist. Any medication should only be taken after consultation with the attending physician or hemophilia center, as some active ingredients increase the bleeding tendency. People with hemophilia do not have to forego sporting activities: Sports with a low risk of injury such as running, hiking, cycling or swimming are ideal; team sports with frequent physical contact are less suitable. Vacation trips are also possible, but a sufficient amount of clotting factor concentrates and sterile disposable syringes and cannulas should always be carried along.
