Haemophilia is a rare genetic disorder of blood clotting. Haemophilia is a rare disease that affects 1 in 10,000 people with frequent bruising and prolonged bleeding. Only women are carriers of the defective gene, but mainly men suffer from the disease.

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.

Hemophilia - what is it?

People with hemophilia do not produce the "sticky substances", one of the clotting factors (or do so in very small amounts). Therefore, their bleeding lastslongand can belife-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.

Hemophilia can be very rare, even in women. Blood clotting factor deficiency is also sometimes seen in some liver diseases. Then the first symptom is prolonged menstruation and frequent nosebleeds.

Hemophilia - symptoms

The first symptoms of the disease may show upright after birthu, but most often they are noticed atthe end of the first year of lifewhen the baby begins to crawl - becomes more active. Parents observe with horror that the little one has new bruises all the time.

These slight 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, and 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.

The most bothersome symptom of the disease is bleeding into the joints. This is known ashemophilic arthropathy ,which leads to significant or complete damageof the 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 incidents repeat themselves. 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 - inheritance

Hemophilia is an inherited disease that is already born into the world and cannot be infected with it. It is passed on in the parents' genes, which contain information about how the body's cells will function.

If a man has hemophilia and the woman does not carry the hemophilia gene, none of the sons in their relationship will have hemophilia. However, each daughter will inherit the damaged gene. These women are calledcarriers of hemophilia . They may or may not pass this gene on to their children. The probability that a son of such a woman will be born sick is50 percent . The same percentage applies if the daughter of a carrier will also be a carrier.

There are alsowomen with hemophilia . However, this only happens when the father is sick and the mother is a carrier. In medicine, however, it is an extremelyrare case of . There is also a situation where a child is born with hemophilia, although no one in the family suffered from it. In this case, themutation in the blood coagulation factor geneis responsible for the disease. However, it is only30%of all hemophiliacs.

The first reports of hemophilia appear in writings from1st and 2nd century AD .

Hemophilia - the three types of the disease

  • Type A: the most common form of the disease. Sufferers do not have enough blood clotting factorVIII.
  • Type B: less common. In this case, there is a deficiency of the factorIX . Type A and B haemophilia mainly affects men.
  • Type C: there is aXIdeficiency of blood coagulation factor. This type of hemophilia mainly affects Ashkenazi Jews - both women and men

All three forms of the disease follow the same course, but must be treated differently due to the deficiency of different clotting factors.

Hemophilia - the three faces of the disease

There are three types of hemophilia: mild, moderate, andheavy. The form of the disease depends on thelevel of the blood clotting factor . In a he althy person, the level of factor VIII or IX ranges from50 to 150 percent

  • Mild form of hemophilia- This level is between5 and 30%of normal clotting factor activity. These people may experience prolonged bleeding after surgery or as a result of serious injury. However, with this form of haemophilia, serious bleeding may never occur, or it may bleed uncommonly. Bleeding only occurs when injured.
  • Moderate hemophilia- this is1-5 percentof normal clotting factor activity. In this case, the patient's life is more complicated. Prolonged bleeding may occur following surgery or serious injury. Bleeding can also occur during a simple dental procedure. Bleeding usually happens once a month. However, they rarely appear for no apparent reason.
  • Severe hemophilia- this is1 percentof normal clotting factor activity. In this case, frequent bleeding into the joints and muscles occurs. The knee, ankle and elbow joints are particularly vulnerable. Bleeding can occur for no apparent reason, and may occur once or twice a week.

Hemophilia - treatment

There is an effective treatment for hemophilia. Patients should constantly receiveblood clotting factor concentrate.But the therapy is most effective when the drug is started before the first bleeding occurs, i.e. inearly childhood. Such prophylaxis can save not only from disability, but also give a chance to get education, independent life, full independence. In addition, when the child grows up and learns to live with his illness, it is permissible to administer clotting factoron demand , which is when a stroke is due. This can be done because of its characteristic symptoms.

Today, treating hemophilia has become easier withrecombinant concentrates . As a result of understanding the structure of genes, it has been found out that it is possible to produce a clotting factor not from human blood, but from the culture of appropriate cells by introducing an appropriate gene into them. These are animal cells that, after introducing a gene, begin to produce the necessary protein. Since the early 1990s, such recombinant concentrates have been replacing plasma-derived drugs. Scientists have been forced to work on recombinant concentrates by diseases of the early 1980s: HIV andhepatitis C virus. Blood donors have not been tested, and thus - infections in hemophiliacs began to spread rapidly.

Hemophilia - the situation in Poland

The World He alth Organization (WHO) and the World Haemophiliac Federation have established atherapeutic standardof blood clotting factor units that should be administered regularly. As a result, the lives of the sick are not much different from the lives of he althy people. However, patients in Poland are given little more thanhalf of this standard . 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 tounder-treatment . Untreated, because there is no other way to treat hemophilia. The blood clotting factor cannot be replaced with any other specificity.

Therefore, 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 costsPLN 4,800per 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, onlyPLN 1600is 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.

Hemophilia - Glossary of Terms

Haemophilia A- it is caused by a mutation in the Xq28 locus, which causes a deficiency of blood coagulation factor VIII (anthemolytic factor).

Hemophilia B- mutation in the Xq27.1-q27.2 locus, deficiency of blood coagulation factor IX (christmas factor).

Vascular port- permanent subcutaneous access to venous blood vessels. It consists of a chamber with a silicone membrane and an attached catheter that ends in the vena cava near its exit to the right atrium. The port chamber is most often located in the subclavian region. By inserting into the port chamber with a special needle, access to the central venous vessels is obtained, through which both infusions and blood aspiration are possible. Siliconethe membrane can be punctured more than 2000 times. A properly set up and operated port can be used for several years.

Inhibitors- antibodies (proteins) made by the human body to fight what they consider "foreign". A person with hemophilia can develop an inhibitor that fights the factor introduced into the body. If the inhibitors are very active, the usual dose of the agent may become ineffective. Inhibitors are not very common. They most often appear in people with severe hemophilia. Before surgery or major dental surgery, doctors should check that the person who wants to undergo the procedure does not have a clotting factor inhibitor. Special drugs are used to treat bleeding in patients with a clotting factor inhibitor. blood clotting - a natural, physiological process that prevents blood loss due to damage to blood vessels. The essence of blood clotting is the passage of fibrinogen dissolved in plasma into the lattice of a clot (fibrin) under the influence of thrombin. Blood clotting is one of the body's defense mechanisms when the continuity of tissues is interrupted.

Blood coagulation factor- group of substances (mainly proteins and polypeptides) present in plasma, responsible for the blood coagulation process. Twelve of them are marked with Roman numerals, e.g. factor II - prothrombin, III - thromboplastin, IV - calcium ions. The others, discovered later, have no numbering. Each protein clotting factor (with the exception of factor i - fibrinogen) is activated by an enzymatic reaction involving a previously activated factor (cascade process).

Recombinant drug- resulting from genetic engineering.

Plasma drug- made from human blood.

Hemophilia. Facts and myths

  • Myth 1 If a person with hemophilia injures himself, he will bleed to death

In people with hemophilia, blood does not clot properly and therefore bleeding is prolonged. However, with the right treatment, we are able to control bleeding with ease. In general, people with haemophilia experience internal bleeding. However, it cannot be said that a person with hemophilia bleeds faster. Sometimes it takes a little longer to stop any prolonged bleeding. Small cuts sometimes require pressure at the cut, and this generally solves the problem completely.

  • Myth 2 People with hemophilia cannot play sports

People with hemophilia know that by strengthening their muscles and joints,protect them from bleeding. Of course, sports that involve very serious injuries should be avoided. They are the so-called contact sports. People with hemophilia must learn to live with their disease and discover what is beneficial for them. However, they can - and should - engage in sports that are good for their he alth and condition.

  • Myth 3 Children with hemophilia must attend special schools

This is one of the most damaging myths, as children with hemophilia develop like their peers and should be treated the same way.

  • Myth 4 Children with hemophilia should wear helmets and pads at all times

This is absolutely not true. Every child, whether he has hemophilia or not, should use protectors and a helmet when playing which is at risk of injury, such as cycling or inline skating. Skiers must also wear a helmet.

  • Myth 5 Hemophilia is a contagious disease

There is no basis for accepting such a view. Hemophilia is a genetic, hereditary disease. However, about 30 percent. the occurrence of haemophilia is associated with a gene mutation and is not due to the so-called family history.

Category:

Cardiology