What is hemophilia - causes, signs, diagnosis. Treatment of hemophilia in adults and children. How hemophilia is transmitted, who are carriers. Signs of hemophilia in humans, treatment of hemophilia, as inherited. In this article we will consider the causes, symptoms and treatment of hemophilia in adults and children.

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

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Today we will talk about such an ailment as hemophilia. We will consider the symptoms of the disease, figure out the causes of the disease, and also analyze possible methods and methods of its treatment.

Hemophilia: signs and symptoms

Before we begin to consider the signs of this serious ailment, we need to understand what it is, because, despite the sufficient “fame” of the word “hemophilia”, what few know this disease.

Hemophilia is a sufficiently serious illness that is expressed in impaired blood coagulation. It is important to say right away that this ailment is for the most part inherited.

An important fact is that only male representatives suffer from this disease. Throughout the world, there are only about 60 cases when this disease was found in women. The bearer of the disease is the woman.

It is also very important to immediately talk about what forms of hemophilia exist today:

Hemophilia A or as it is also called, classical hemophilia. Most people with a diagnosis of hemophilia suffer from a similar form of the disease. In percentage, this is approximately 85 % of all cases. This form of the disease is manifested in a lack of antimophilic globulin (deficiency of the XIII coagulation factor).
With this form of hemophilia, the patient is observed throughout his life, however, the severity of the disease will directly depend on the amount of the missing factor. In simple words, then a person who is sick with a classic form of hemophilia and the lack of factor XIII who does not have a very large one, in principle, will not acutely feel his disease.
A bright exposed disease of this form and with such a small drawback of factor XIII will be acquired only with any extremely severe injuries or during operations. It is important to note the fact that with age patients with this form of hemophilia are more resistant to manifestations of bleeding. The most dangerous period of a person’s life with such a form of ailment is earlier, when the child often hits, falls, receives injuries.
Hemophilia B - it manifests itself in a deficiency of such a component as plasma thromboplastin (factor IX). This form of the disease is much less common than the previous one, in about 13% of cases.
Previously, another form of hemophilia was distinguished - C, it was about 2% of all cases, however, now this form of the disease was excluded from the classification of hemophilia forms.

Also distinguish this classification of hemophilia forms:

Severe - the lack of factor is up to 1%. This form of the disease is expressed in very dangerous sudden bleeding from a very early age. Internal hemorrhages can be observed.
The average-the lack of a factor is approximately 1 to 4-5%. Hemorrhages in muscle tissues and joints are observed.
Light - the level of factor is more than 5%. Bleeding in comparison with the previous two forms is very rare and less dangerous, as a rule, associated with surgical intervention or serious injuries.

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

This disease can prove itself at different ages, however, most often this happens in the first years of human life. In newborn children, bleeding from the stump of umbilical cord can be observed, but this happens for at least 4 days of their life. Therefore, it is a mistake to think that the first bleeding in a child can occur immediately after the birth.
Also, kids can suffer from bleeding after cutting the bridle.
Becoming a little older, children can be tormented by bleeding while the teeth are cut, when biting the tongue, 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, he begins to walk, run, fall, and all this can cause 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 are extremely painful and dangerous, because with frequent hemarthrosis, complete immobility of the joint develops.

The most vulnerable, perhaps the elbow and knee joints, is much less likely to suffer from hip and shoulder. What do we observe with hemartrosis visually? The joint itself becomes much larger, swollen, becomes hot, body temperature can also increase.

Sometimes hemorrhages can be observed in bone tissue.
Often the ailment can be manifested by blood from the nose.
As a symptom, anemia can be called.
When hemorrhage occurs in the muscles, large bright bruises and hematomas are observed, which do not pass for a very long time.
They can bleed the gums.
There are abundant bleeding from the pharynx, 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, bleeding can make themselves felt several hours after the direct injury. Sometimes from the time of obtaining a bruise or injury to bleeding, more than 5-10 hours pass.

Hemophilia: causes

The signs of this ailment are more or less clear, but the reasons require a more detailed study.

So, as already mentioned earlier, the bearers of the hemophilia gene are women, but they will inherit this ailment in the vast majority of men.

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

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

The disease gene is recessive, that is, one that is suppressed by the dominant genome and is manifested only if both parents pass it on to their child. The gene is located in the X chromosome and it is linked to the sex of man. So that a girl, patient with hemophilia, should be born purely theoretically, it is necessary that the mutation is in one and the second X chromosome, but this is impossible in principle, since the fruit, which has such a pathology, is considered unusual and, unfortunately, approximately on 4th week of bearing in a woman terminates pregnancy
The situation is different with men. Male representatives have 2 chromosomes-X and Y. In the Y chromosome there is no dominant gene that could suppress the recessive and therefore, in the presence of a recessive gene in the X chromosome, boys get sick of this disease.

The question of the probability of hemophilia transmission is important. It is impossible to say exactly what is the probability of obtaining a mutated gene, but in medical practice they are inclined to the following opinions:

If a woman is a carrier of the disease, and her sexual partner is absolutely healthy, then the probability of getting a sick offspring is 50/50 %.
If in a couple a man is sick with hemophilia, and a woman is healthy, then such an outcome is possible: either absolutely healthy boys or carrier girls.
Previously, we mentioned approximately 60 cases when women were patients with this ailment. So, this can happen only in extremely rare cases, when the mother of the child is a carrier of the disease, and dad is directly sick with her.
Very rarely, unfortunately, it happens that in absolutely healthy parents a sick baby is born. This phenomenon is associated with the processes of mutations during the formation of the parental sex.

Hemophilia treatment

Previously, the statistics of mortality among people with hemophilia could not please us, because there were a huge number of cases when people died at the age of about 30 years. To date, thanks to the development of medicine, people with such an ailment can live for a relatively long time.

However, before we start talking about the treatment of hemophilia, let's give a little time to diagnose the disease, because it is this stage that precedes the prescription of proper treatment.

So, the diagnosis of hemophilia is as follows:

Of course, initially a person should have some complaints about the state of his health, a person must doubt that he is healthy. Here let's recall what symptoms and signs this disease has.
Frequent bleeding, for a long time, does not stop blood, the appearance of bleeding and bruises is not immediately after the bruise, injury, but after some time (2-10 hours). Here with such complaints to the doctor, a person can apply.
The specialist initially collects an anamnesis and evaluates the general state of human health, analyzes the patient's complaints.

As a rule, a person is sent to a blood test that 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 tests are prescribed.
The presence of a disease in the patient's relatives is revealed.
Then the specialist must find out the type of hemophilia, and then determine the activity of the XIII or IX factor.
Sometimes the patient needs consulting other experts, it can be a gastroenterologist, traumatologist, surgeon, if we are talking about a newborn, then a neonatologist.
It is also impossible not to say about the preventive diagnosis. It takes place if people who tend to give birth to a sick baby plan pregnancy. In this case, a molecular genetic study is carried out.

Well, now let's move directly to the treatment of hemophilia. Unfortunately, as already mentioned earlier, it is impossible to cure hemophilia, however, you can live a very long life, supporting your body “afloat” due to such procedures:

The introduction of a mixture of coagulated factors.
The use of freshly frozen plasma by introducing it into the blood.
Also used by erythomas.
A comprehensive medical drug called PPSB (form of hemophilia B) is used.
They can use other means that affect the improvement of blood coagulation.

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

You need to lay the patient.
The joint is mandatory to cool with the help of improvised means.
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.
Ultra -high -frequency therapy (UHF) is also actively used.
Sometimes anti -inflammatory drugs are administered into the joint cavity.
After bleeding, a person needs to ensure complete peace. The air temperature in the room where the person is located is better to reduce so that the room becomes cool.
Special attention should be paid to the patient's nutrition. The food that he eats should be rich in useful substances and vitamins.
If there are external bleeding, then the patient’s wounds are necessarily washed, cleaned and disinfected, however, such a 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 first doubts in a state of health, it is better to consult a therapist. The symptoms of hemophilia are very clear and specific, so confusing it with any other ailment is extremely difficult.

It is also not recommended to neglect the preventive diagnostics, because it is much easier to prevent the disease than to treat it to your child all your life. Treat your health as carefully as possible, responsibly and, of course, be healthy.