What is hemophilia - causes, signs, diagnostics. Treatment of hemophilia in adults and children. How is hemophilia, who is carriers

Unfortunately, there are a huge number of different diseases in the world that are not amenable to rapid treatment, as well as those that are not treated at all.

Today we will talk about such an age as hemophilia. We will look at the symptoms of the disease, we will deal with the causes of the occurrence of the disease, as well as analyze the possible methods and methods for its treatment.

Hemophilia: signs and symptoms

Before we start considering the signs of this serious illness, it is necessary to understand what he represents, because, despite the words "Hemophilia" as a sufficient "fame", which is a few.

Hemophilia is a sufficiently severe disease, which is expressed in the violation of blood coagulation. It is important to immediately say that this ailment in its majority is hereditary.

An important fact is that only male representatives suffer from this disease. There are only about 60 cases around 60 cases around the world, when this disease was discovered in women. Wearer at least a woman is.

It is also very important to immediately tell about which forms of hemophilia exist today:

• Hemophilia or or as it is also called, classical hemophilia. A similar form of the disease suffers from the most people with a diagnosis of hemophilia. In percentage ratio, this is about 85% of all cases. A given form of illness is manifested in the lack of antihemophilic globulin (lack of XIII coagulation factor).
• With this form of the disease, hemophilia is observed in a patient throughout his life, however, the severity of the disease will directly depend on the amount of missing factor. If we speak with simple words, then a person who is sick of the classical form of hemophilia and the lack of factor XIII, which is not very big, in principle, will not be able to sense his disease.
• A bright nature of the illness of such a form and with such a small disadvantage of the factor XIII will acquire only with any extremely strong injuries or during operations. It is important to note the fact that with age patients with this form of hemophilia become more resistant to the manifestations of bleeding. The most dangerous period of the life of a person with such a form of illness - earlier childhood, when the child often hits, falls, gets injuries.
• Hemophilia in - it is manifested in a lack of such a component as plasma thromboplastin (Factor IX). This form of illness occurs much less than the previous one, about 13% of cases.
• Previously allocated another form of hemophilia - C, it occurred about 2% of all cases, however, now this form of the disease was excluded from the classification of the forms of hemophilia.

Also allocate such classification of hemophilia forms:

• Heavy - deficiency of the factor is up to 1%. This form of the disease is expressed in very dangerous sudden bleeding from the very old age. Internal hemorrhages may be observed.
• The average is a fault of the factor ranges from about 1 to 4-5%. There are hemorrhages in muscle tissues and joints.
• Easy - the level of factor is more than 5%. Bleeding compared to two previous forms are very rare and less dangerous, as a rule, are associated with surgical intervention or serious injuries.

Now, when you imagine and understand what hemophilia is, let's look at how it manifests itself, that is, its symptoms and signs.

• This disease can manifest itself at different ages, however, most often it happens in the first years of human life. Newborn children can have bleeding from the umbilical cords, but it happens at least 4 day of their lives. Therefore, it is mistaken to think that the first bleeding in a child can occur immediately immediately after the appearance of the light.
• Also kids can suffer from bleeding after cutting the bridle.
• Being a little older, kids can suffer from bleeding during the way the teeth are cut, when biting the language, lips.
• The older the child becomes, the stronger and more dangerous can be bleeding. This is due to the fact that the baby becomes active and more independent, it begins to walk, run, fall, and this can all be caused by serious injuries that are accompanied by hemorrhages.
• The most common for adult patients are hemarthrosis - the so-called hemorrhages in the joints. Such manifestations of hemophilia is extremely painful and dangerous, because with frequent hemarrosis, complete stuffiness of the joint is developing.

The most vulnerable, perhaps, elbow and knee joints are much less frequently suffering hip and shoulder. What are we visually observing with hemarthritis? The joint itself becomes much more, swells, becomes hot, the body temperature can also increase.

• Sometimes you can observe hemorrhages in bone tissue.
• Often, no chance can manifest blood from the nose.
• As a symptom, you can call anemia.
• When hemorrhage occurs in the muscles, large bright bruises and hematomas are observed, which do not pass a very long time.
• Dums can bleed.
• There are abundant bleeding from the oz, nasopharynx.
• Also often there are hemorrhages in the brain.
• Sometimes hemophilia can manifest itself through pyelonephritis.
• Frequent "guests" are bleeding from the internal organs of a person.

It is important to know that with such a disease of bleeding can know about yourself a few hours after the immediate injury. Sometimes with the time of receiving the injury or injury to bleeding, more than 5-10 hours.

Hemophilia: Causes

With the signs of this ailment, everything is more or less understandable, but the reasons require more detailed study.

So, as already mentioned earlier, the carriers of the hemophilia gene are women, but inherit this ailment in the overwhelming majority of men.

The main reason for the occurrence of hemophilia is the mutation that occurs in the X chromosome.

Let's figure out how the transmission of this ailment occurs:

• The disease gene is recessive, that is, that is suppressed by the dominant genome and manifests itself only if both parents give it to their child. There is a gene in the X-chromosome and he hits with a man's fellow. In order for a purely theoretically born a girl, a sick hemophilia, it is necessary that the mutation is and in one and in the second X chromosome, but this is not possible in principle, since the fruit that has such pathology is considered to be unable and, unfortunately, about 4 week of tooling in a woman occurs a pregnancy interruption
• With men, the situation is different. For male representatives in stock 2 chromosome - x and y. There is no dominant gene in the Y-chromosome, which could suppress recessive and therefore, in the presence of a recessive gene in the X-chromosome, boys are ill with this disease.

Important is the question of the probability of transferring hemophilia. To say exactly, what is the probability of a mutated gene, it is impossible, but in medical practice inclined to such opinions:

• If a woman is a negligence carrier, and its sexual partner is absolutely healthy, then the probability of getting a sore offspring is 50/50%.
• If in a pair, the man is sick hemophilia, and a woman is healthy, then such an outcome is possible: either absolutely healthy boys or carrier girls.
• Previously, we mentioned about 60 cases, when women turned out to be sick data from data. So, this can only happen in extremely rare cases when the mother's mother is a carrier of the disease, and the dad is sick directly.
• It is very rare, unfortunately, it happens that absolutely healthy parents are born a sick kid. Such a phenomenon is associated with mutation processes during the formation of the parental sex cell.

Treatment of hemophilia

Earlier mortality statistics among people, patients with hemophilia, could not please us, because there were a huge number of cases when people died aged about 30 years. To date, thanks to the development of medicine, people with such a notch can live relatively long.

However, before we start talking about the treatment of hemophilia, let's take a little time to diagnose the disease, because this particular stage is preceded by appointing proper treatment.

So, the diagnosis of hemophilia occurs as follows:

• Of course, initially a person should have any complaints about their health, a person must doubt that he is healthy. Here let's remember which symptoms and signs have this disease.
• Frequent bleeding, for a long time not stopping blood, the appearance of bleeding and bruises not immediately after the injury, and after some time (2-10 hours). This is about such complaints to the doctor can see a person.
• The specialist initially collects history and evaluates the overall state of human health, analyzes the patient's complaints.

• As a rule, a person is sent to the blood test, which determines blood coagulation and shows the presence or absence of coagulation factors. If the analysis confirms the fears of the doctor, a number of the following analyzes are assigned.
• It turns out the presence of a disease in the relatives of the patient.
• Then the specialist should figure out the type of hemophilia, and after determining the activity of XIII or IX factor.
• Sometimes the patient needs consultation of other specialists, it may be a gastroenterologist, a traumatologist, surgeon, if it comes to a newborn, then neonatologist.
• Also, it is impossible not to say about preventive diagnosis. It takes place in the event that people who tend to give birth to a sick baby are planning pregnancy. In this case, a molecular genetic study is carried out.

Well, now let's move directly to the treatment of hemophilia. Unfortunately, as it was already said earlier, hemophilia is impossible to heal, however, it is possible to live a very long life, supporting your body "afloat" due to such procedures:

• Introduction to man of a mixture of coagulated factors.
• The use of freshly frozen plasma by introducing it into the blood.
• Also used erythromass.
• Apply a comprehensive medical preparation called PPSB (the form of hemophilia B).
• Can use other means that affect the improvement of blood coagulation.

The above is the main thing about what is treated. Also, treatment can be symptomatic, since hemophilia manifests itself differently. When hemorrhages occur in the joint joints, it is important to adhere to such recommendations:

• You need to put the patient.
• The joint is mandatory to cool with the help of prior art.
• It is important that the joint does not move, so it is better to fix it with a gypsum bandage for at least a couple of days.
• Also actively used ultra-frequency therapy (UHF).
• Sometimes anti-inflammatory means are introduced into the cavity of the joint.
• After bleeding, it is necessary to ensure complete peace. The temperature of the air in the room where the person is located, it is better to reduce that in the room it became cool.
• Separate attention should be paid to the patient's nutrition. Food that he uses should be rich in useful substances and vitamins.
• If there were external bleeding, the patient's wounds are necessarily washed, clean and disinfected, but this procedure under anesthesia occurs.

Hemophilia is actually a serious and extremely dangerous disease that requires early diagnosis and proper, effective and objective treatment. That is why, at the very first doubts, in a state of their health, it is better to consult with the therapist. The symptoms of hemophilia is very clear and specific, so it is extremely difficult to interpret it with any other illness.

It is also not recommended to neglect the prophylactic diagnosis, because to prevent the ailment is much easier than then all his life to treat him to his child. Treat your health as carefully, responsibly and, of course, be healthy.

Video: Hemophilia. Symptoms, causes and methods of treatment