Hemophilia, also popularly known as hemophilia, is an inherited disorder that affects the ability of blood to clot. In addition to preventive measures, long-term therapy is possible in severe cases.
What is hemophilia (blood disease)?
According to abbreviationfinder, haemophilia in childhood can often be recognized by the increased tendency to bruise. Even minor injuries can lead to severe bleeding in the tissue and joints, which causes severe pain and can deform the affected joints if not treated adequately.
Haemophilia or bleeding disorder is a disease in which blood clotting is disturbed. This means that blood that escapes from a wound in a sick person either coagulates 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 diseases; about 85% of those affected have hemophilia A. Although the symptoms of hemophilia A and hemophilia B hardly differ, the coagulation factors involved are different in the two forms of the hemophilia.
Coagulation factor VIII is affected in hemophilia A and factor XI in hemophilia B. In Germany, about every 10,000th person is affected by hemophilia. Haemophilia is one of the most common hereditary diseases.
Causes
The hemophilia is transmitted by the sex chromosome X. Because women have two X chromosomes, if they have a second healthy X chromosome, they can transmit hemophilia without having the disease themselves; because the hemophilia is recessively inherited.
This means that a disease only occurs when there is no second X chromosome that is intact.
Since men only have a single X chromosome in addition to a Y chromosome, they develop hemophilia if they are given a non-intact X chromosome.
This is also a reason why women are less likely to be affected by hemophilia than men.
Symptoms, Ailments & Signs
The main symptom of bleeding disorders (hemophilia) is generally an increased tendency to bleed, which usually becomes apparent in childhood. Bleeding is also more severe during operations than in healthy people. Another sign is that bleeding after an injury can be difficult to stop.
Haemophilia in childhood can often be recognized by the increased tendency to bruise. Even minor injuries can lead to severe bleeding in the tissue and joints, which causes severe pain and can deform the affected joints if not treated adequately. Cuts and abrasions are not a major problem because superficial wounds in hemophiliacs heal just as quickly as in healthy people.
There is a particular risk of bleeding in the area of the head and internal organs. A typical sign of the hemophilia can be bleeding that stops at first and starts bleeding again after several hours or days. Mild hemophilia causes few symptoms because spontaneous bleeding rarely occurs.
With moderately severe hemophilia, even minor injuries can cause severe bleeding, and with severe hemophilia, spontaneous bleeding can occur for no apparent reason, which bleeds into the joints and triggers the typical joint pain (hemarthrosis).
Diagnosis & History
Symptoms of hemophilia include frequent bleeding in those affected. The tendency to bleed varies from patient to patient; Above all, this is related to how severe the deficiency of coagulation factors is in the individual.
In most cases, people suffering from hemophilia start bleeding before they are one year old. The first signs of hemophilia can also be frequent and severe bruising. As a rule, abrasions or small cuts are no more dangerous for people suffering from the hemophilia than for healthy people, because the closure of such superficial injuries is intact in the patient (however, injuries to the head or base of the tongue are dangerous). Haemophilia is usually constant. This means that there is usually neither an improvement nor a deterioration in the course of life.
Complications
Those affected by hemophilia suffer from increased bleeding. These occur even with very small and simple injuries and can thus significantly reduce the patient’s quality of life. Bruising and blood clotting disorders are also not uncommon.
This disorder makes it difficult to stop bleeding, which can lead to life-threatening emergencies in the event of an accident or major injury. As a rule, the person affected is restricted in their everyday life by hemophilia and must watch out for and avoid certain risks. In most cases, the patient has suffered from hemophilia since birth and there is no spontaneous healing, improvement or worsening of the disease.
Unless there is significant bleeding or major injury, this disease does not reduce life expectancy. As a rule, treatment takes place with the help of medication. The affected person can also inject this themselves in order to be able to stop any bleeding themselves. Since there is no causal treatment for hemophilia, lifelong therapy is required. Furthermore, there are no further complications.
When should you go to the doctor?
If bleeding occurs repeatedly and cannot be stopped with the use of plasters and other aids, hemophilia may be the cause. A doctor must be consulted if the bleeding becomes more frequent and associated with pain or blood clotting disorders. If bruising is noticed at the same time, medical advice is required in any case. This is especially true for sudden bleeding and effusions that cannot be traced back to a specific cause. If bleeding occurs even with minor abrasions or small cuts, it is most likely hemophilia.
Since it is a genetic disease, no preventive measures can be taken. Parents who suffer from the hemophilia themselves should have their child examined at an early stage. If bleeding causes circulatory problems, tachycardia and other symptoms, the emergency services must be called. In the event of a circulatory collapse, first aid measures must be taken until medical help arrives. Children should be taken to the pediatrician for recurrent bleeding.
Treatment & Therapy
There is currently no cure for hemophilia. The treatment of hemophilia depends, among other things, on the severity of the disease. If a person has severe hemophilia, therapy may consist of intravenously administering the necessary clotting factors.
Corresponding coagulation factors, which are administered in hemophilia, can either be obtained from donated blood or produced by genetic engineering. In some cases, children with severe hemophilia are given coagulation factors at regular intervals. This can happen about two to three times a week.
If the hemophilia in a patient is less pronounced, an alternative to long-term therapy can be what is known as on-demand treatment. The administration of coagulation factors depends on the needs. Such a requirement would exist, for example, in the event of acute bleeding or in the run-up to a necessary operation.
For example, in small children who suffer from hemophilia, the coagulation factors are usually administered initially by a doctor treating them. 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 the hemophilia, they can prevent the symptoms (bleeding) primarily through low-risk behavior. For example, leisure activities with a high risk of injury can be avoided. People who suffer from hemophilia usually carry an emergency card with them that provides information about the doctor treating them. Patients should also be careful when taking various medications, as these can also inhibit blood clotting.
Aftercare
For those who suffer from hemophilia, prevention, treatment and aftercare are directly intertwined. In any case, it makes sense to be careful in everyday activities to avoid bleeding. A sport with an increased risk of injury is therefore not recommended. 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 important information in an emergency situation. In some cases, certain precautionary measures apply to the sick when taking certain medications that may have an influence on blood clotting. Whether the patient is adult or younger, to be on the safe side, relatives, friends and colleagues should be informed about the hemophilia.
If an injury should occur, those present will know what to look out for. Where a plaster is sufficient for healthy people, the hemophiliac needs a firm pressure bandage. Those affected should keep their hemophilia ID card up to date and always take it with them.
The medication for better coagulation should always be at hand. There is another option for the parents of sick children: They can be instructed in the correct procedure for injecting the coagulation factors and carry out the administration themselves.
You can do that yourself
Today, despite hemophilia, sufferers can live a largely normal life if a few precautions are followed. Family members, but also 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 card is always up to date and ready to hand – medication prescribed by the doctor or coagulation factors to be used if necessary should also always be at hand.
If minor bleeding is quickly treated with a pressure bandage, no further measures are often necessary: In the case of injuries to the head or abdomen in particular, the person concerned should be closely monitored because of the risk of internal bleeding and, if necessary, consult a doctor. Operations in the mouth area can cause major bleeding in hemophilia, so careful dental care and regular visits to the dentist should be of great importance to hemophiliacs.
Any medication may only be taken after consultation with the treating doctor or hemophilia center, as some active ingredients increase the tendency to bleed. Even hemophiliacs do not have to do without sports 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. Holiday trips are also possible, but you should always take a sufficient amount of coagulation factor concentrates and sterile disposable syringes and cannulas with you.