Hemophilia – types and diagnosis. We debunk the myths about hemophilia

Proven content

Hemophilia was considered a mysterious disease. There were many not fully verified opinions about her. The truth is that almost exclusively men suffer from it. Thanks to modern treatment methods, however, they can work and live almost normally.

1. Hemophilia is a disease that is directly related to blood, or rather to its clotting. There are several types of it
2. It is not true that even the smallest cut can end in a tragic hemorrhage.
3. On April 17, we celebrate World Hemophilia Day
4. You can find more such stories on the TvoiLokony home page

The disease of kings – this belief about hemophilia used to function in the common consciousness. It was associated with high-profile cases of this disease among royal families. Queen Victoria’s son suffered from hemophilia and her two daughters were carriers of the disease. Alexy, the son of Tsar Nicholas II of Our Country, also suffered from it. Many people still believe that a small scratch is enough for a patient to die of a hemorrhage. What’s the truth?

Hemophilia – types

The first information about hemophilia appeared in Jewish writings in the beginning of our era. It was classified as a disease only in the XNUMXth century.

There are haemophilia A, haemophilia B and haemophilia C. The first type is hereditary bleeding disorder caused by a decrease in the activity of coagulation factor VIII in the blood plasma. This blemish makes it difficult for a clot to form, and bleeding lasts longer than in healthy people. The mother carries this genetic trait, and her male descendants suffer from the disease. Why? Because the X chromosome, which is responsible for sex, also contains the gene that causes the disease.

Hemophilia A it is further divided (due to the degree of clotting factor deficiency) into severe, moderate and mild form. A boy presents symptoms of severe hemophilia around 1-2. r. f. as prolonged bleeding after minor injuries or bruises on the legs. Spontaneous haemorrhages to joints, most often knee and elbow joints, are the most characteristic.

1. See also: Blood clotting disorders – causes, symptoms and treatment

Such bleeding appears for the first time around 3–4. r. f. They are very painful, the sick feeling them as tingling and warmth. Because they are repeated many times, the soft tissues of the joint are damaged, the bone surfaces are distorted and are not protected by a layer of cartilage. This leads to joint damage (hemophilic arthropathy) – teenage boys sometimes have such damaged joints as people over 70 years of age. In most countries, these complications can be avoided with appropriate treatment. Until recently, when proper therapy was not applied, bleeding into the back wall of the throat, after surgery and tooth extraction, was dangerous.

Hemophilia B in turn, it is caused by a decrease in the activity or a deficiency of coagulation factor IX in plasma. Here, too, we can distinguish severe, moderate and mild form. The degree of inheritance of the disease and its symptoms are also similar.

Hemophilia C consists in the presence of a deficiency of blood clotting factor XI. This type of hemophilia mainly affects Ashkenazi Jews. Type C affects both women and men.

The carrier state of hemophilia can be detected by DNA analysis. Experts emphasize that it can appear in any family, regardless of the parental origin and economic status, and of course, it is not a disease that can be contracted.

There are 3 levels of severity of hemophilia depending on the concentration of coagulation factors:

1. mild hemophiliain which the concentration of factor VIII or IX is above 5% of normal
2. moderate hemophiliawhere the concentration of factor VIII or IX is 1-5% of normal
3. severe hemophilia (accounts for approximately 50% of haemophilia) in which the factor VIII or IX concentration is less than 1%.

How common is hemophilia?

Hemophilia A occurs in Poland with a frequency of 7/100 thousand. people and is also the most common type of hemophilia, while type B hemophilia affects only 1 / 100. people, and hemophilia C is much less common.

What if I have symptoms of haemophilia?

Children who have a positive family history of hemophilia, such as a father or sibling with hemophilia, or a family history of hemophilia, should be looked after by a specialist haematologist.

Children and adults with a family history of no haemophilia and who have had abnormal bleeding (especially bleeding into a joint) or have a prolonged bleeding time should immediately see a GP who will refer the patient to a general practitioner if necessary after performing basic tests. hematologist.

Hemophilia – diagnosis

In order to diagnose hemophilia, the physician conducts a thorough family history of hemophilia, including a special focus on the patient’s mother. The doctor may also order screening tests: peripheral blood count with platelet count, prothrombin time, activated partial thromboplastin time (APTT). If he finds any abnormalities in the results that may indicate haemophilia, he will refer the patient to a haematologist for specialist tests that include factor VIII, IX, and XI activity, as well as genetic testing.

1. See also: Blood – composition and its functions

What must people with hemophilia not do?

People with hemophilia cannot take certain medications such as e.g. acetylsalicylic acid, indomethacin, phenylbutazone, as well as other non-steroidal anti-inflammatory drugs that inhibit platelet function (have an anticoagulant effect). People with hemophilia should also not use intramuscular injections.

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What should people with hemophilia do?

Everyone with hemophilia or who is a parent of a child with hemophilia should:

1. learning about the disease and taking care of physical activity as it reduces the risk of obesity, which puts a huge strain on the joints, and a hemophiliac should avoid it);
2. get vaccinated against hepatitis B;
3. in the event of intra-articular or intramuscular haemorrhages, use rehabilitation of the affected joint or muscle under the supervision of a trained physiotherapist, who can help stretch the affected area of ​​the body and restore joint mobility, as well as teach how to protect against injuries; be under constant dental care (the most important thing is to brush your teeth regularly and check-up visits to the dentist).

Hemophilia – primary prevention

Haemophilia lasts a lifetime, but is easily and effectively treated. The life expectancy of patients undergoing appropriate therapy does not differ from the average life expectancy. The basic principle of treating haemophilia is the intravenous administration of the missing blood clotting factor.

It is recommended to administer the drug at the earliest stage of bleeding – a small dose is then sufficient. As a result, the number of hospitalizations drops significantly. Treatment costs are also lower.

In haemophilia A patients are administered lyophilized concentrates of factor VIII obtained from human plasma or by genetic engineering (recombinant factor VIII). The latter provide patients with greater safety. Along with the plasma-derived factor, viruses, for example, which medicine cannot detect, let alone determine, can be transmitted.

In many European countries and in the USA, the so-called primary prophylaxis, i.e. administration of clotting factors 2-3 times a week before the onset of bleeding. This treatment is an internationally accepted standard which, in the long term, reduces the costs of treating patients by up to 40%. In Poland, such preparations are used only after bleeding has occurred (see the statement by President Bogdan Gajewski).

Intravenous plasma-derived concentrates and recombinant factor IX concentrates are used to treat haemophilia B.

Myths Related to Hemophilia

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

In people with hemophilia, the blood does not clot properly, resulting in longer bleeding. However, with the appropriate treatment, a person can easily control bleeding. Typically, people with hemophilia experience internal bleeding.

However, it cannot be said that a person with hemophilia bleeds faster. Sometimes it just takes more time to stop any sustained bleeding. If we are talking about minor cuts, they sometimes require pressure at the cut, and this generally solves the problem completely.

Children with hemophilia must attend special schools

This is perhaps one of the most damaging myths of all. However, it is important to know that children with hemophilia develop in the same way as their peers and should be treated on the same principles.

Children with hemophilia should wear helmets and pads at all times

This claim has nothing to do with the truth. Every child, no matter if he has hemophilia or not, should use protectors and a helmet when playing where there is a high probability of injury, such as cycling or inline skating.

People with hemophilia cannot play sports

Another misconception, interestingly, is actually quite the opposite. People with hemophilia know very well that by strengthening their muscles and joints, they protect them from bleeding.

In fact, such persons should avoid sports that involve very serious injuries. I am talking about the so-called contact sports. People with hemophilia must learn to live with their condition and discover what is beneficial for them. However, they can, and even should, practice sports that are good for their health and keeping fit.

Hemophilia is an infectious disease

There is no evidence that hemophilia is contagious. Hemophilia is a genetic, hereditary disease. Interestingly, however, about 30 percent. the occurrence of haemophilia is associated with a gene mutation and is not due to the so-called family history.

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