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Hemophilia is an inherited disease, that is, it is recorded in our genes. Only women are carriers of the defective gene, but it is mainly men who suffer from the disease. Haemophilia is a blood clotting disorder that causes frequent bruising and prolonged bleeding.

If a he althy person damages the walls of blood vessels (external or internal) and the wound is bleeding, within a few seconds the body begins to produce substances that stick to blood platelets in the so-called decongestants of damaged vessels. This is how blood clotting (haemostasis) starts and after a while the bleeding stops. This is not the case for people with hemophilia.

What is hemophilia?

People with hemophilia do not produce the "sticky substances", one of the clotting factors (or do so in very small amounts). Therefore, bleeding in them lasts a long time and can be life-threatening. The most famous carrier of hemophilia was Queen Victoria, who passed it on to half of the princely families of Europe. The most famous patient was Alexander, the son of the last Tsar of Russia. However, very rarely, women can suffer from hemophilia. Blood clotting factor deficiency is also sometimes seen in some liver diseases. Then the first symptom is prolonged menstruation and frequent nosebleeds.

Symptoms of hemophilia

Haemophilia is divided by doctors into two groups: A - when there is no clotting factor (a substance that clumps platelets together) marked with the symbol VIII, and B - when there is no coagulation factor IX in the body. Both forms of the disease have the same course, but due to the deficiency of different clotting factors, they must be treated differently.

According to an expertDr hab. n. med. Anna Klukowska, Department of Paediatrics, Hematology and Oncology, Medical University of Warsaw

Blood clotting factor is the only drug that can help people with hemophilia. It is produced in the form of a blood plasma powder. Before administration, it is dissolved and administered into a vein. If you are on prophylactic treatment, it should be administered 3 times a week for haemophilia A or twice a week for haemophilia B. Each child should receive the correct number of units of clotting factor concentrate for their weight. The older the child is, the more factor it must receive.Unfortunately, we cannot always stick to this rule. Too often we have to limit ourselves to the so-called minimum effective dose. A separate, but well-controlled problem is the injection of the drug itself. This is done through the peripheral veins, which are those that are visible under the skin. Very young children have a special catheter (the so-called port) inserted into a vein in the area of ​​the collarbone. It is very important to keep the catheter perfectly clean to prevent infection or thrombotic changes. This is an additional difficulty for mothers who have to take great care of their children. They handle it extremely bravely, but are all the more disappointed and despairing when they lack a drug, which is a common occurrence.

The first symptoms of the disease may appear shortly after birth, but are most often noticed at the end of the first year of life, when the baby begins to crawl - it becomes more active. Parents are horrified to see that the little one has new bruises all the time. These small subcutaneous haemorrhages are not harmful to your he alth. But around the age of two or three, bleeding can begin in internal organs, muscles, joints, even in the brain. An injury triggered by a haemorrhage can occur in the most trivial situations, e.g. during a jump, a stronger heartfelt hug. Bleeding in the brain is a direct threat to life. Then the fate of the child depends on the time in which the substance is given to stop the bleeding.

Hemophilia - there is an effective treatment

People with hemophilia should be constantly receiving blood clotting factor concentrate. But treatment is most effective when dosing is started before the first bleed occurs, which is early childhood. Such prophylaxis can save not only from disability, but also give a chance to get education, independent life, full independence. In addition, when a child grows up and learns to live with his disease, it is acceptable to administer a coagulation factor on demand, i.e. when a stroke is due. This can be done because it is foreshadowed by its characteristic symptoms. In order to reduce the effects of joint damage, you need to act immediately - so the patient should have a clotting factor at home. Unfortunately, it is impossible due to Polish regulations. They say that preparations intended for treatment in a hospital cannot be available outside the hospital. Of course, when the patient arrives at the ward, he is given the drug, but firstly - too late, because the stroke has already caused damage, and secondly - the dose of the preparation itself is insufficient.

Hemophilia - blood coagulation factor must be administered regularly

The World He alth Organization (WHO) jointly withThe World Haemophilia Federation has established a therapeutic standard for blood clotting factor units that should be administered regularly. However, patients in Poland are given just over half of this norm. Why? Since doctors have a limited amount of the clotting factor at their disposal, they must use very sparing treatments to ensure that there is enough for everyone. This means that patients are doomed to under-treatment. Untreated, because there is no other way to treat hemophilia. The blood clotting factor cannot be replaced with any other specificity.

Problem

The most bothersome symptom of the disease is bleeding into the joints. This is called haemophilic arthropathy that severely or completely destroys a joint. Not only articular cartilage undergoes gradual degeneration, but also the membrane, synovial fluid and bones. If the patient is not given the correct medication, the events happen repeatedly. After just a few bleeds into the same joint, the damage is so serious that a person becomes dependent. Increasingly, it requires care and assistance with simple activities such as eating, getting dressed, let alone walking. He becomes an invalid.

Hemophilia - the situation in Poland

In all European countries, patients receive prophylactic doses of clotting concentrate that their life is not much different from that of he althy people. Not in Poland. Unfortunately, the standard of living of people with hemophilia in our country depends solely on money. Official data show that over 2,000 people suffer from hemophilia in Poland. people (the real number of sick people may exceed 3.5 thousand). As it is a congenital disease, it manifests itself in childhood. Prophylactic administration of a clotting factor to a child weighing 20 kg costs PLN 4,800 per month. This is too much, say the officials deciding on the allocation of funds. And they argue: using only on-demand therapy, i.e. when a stroke has already occurred, e.g. within a joint, only PLN 1,600 is spent. But this "treatment" - although cheaper - only stops bleeding, not prevents it. Therefore, organ damage is often serious, and this requires a long and specialist treatment. Why are expensive hospital stays, artificial joint implants, and finally care and disability benefits not being taken into account? The mental costs incurred by the patient and his family are also not estimated.

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Cardiology