Hemophilia - this is what a disease? How is it transmitted and what are the symptoms of hemophilia?

For most ignorant people, hemophilia is the so-called royal disease, they know about it only from history: they say that Tsarevich Alexei suffered from it. Because of lack of knowledge, people often believe that an ordinary people can not be sick with hemophilia. There is an opinion that it affects only the ancient births. The same attitude for a long time was to "aristocratic" gout. However, if gout is a nutritional disease, and any person can be affected by it now, hemophilia is a hereditary disease, and any child with an ancestor's disease can get it.

What is hemophilia?

In people, the disease is called "liquid blood". And indeed, its composition is pathological, in connection with which the ability to clotting is impaired. The slightest scratch - and bleeding is difficult to stop. However, these are external manifestations. Much more severe internal, occurring in the joints, stomach, kidneys. Hemorrhages in them can be caused even without external influence and bear dangerous consequences.

Twelve special proteins respond to the coagulability of the blood , which must be present in the blood in a certain concentration. The hemophilia disease is diagnosed if one of these proteins is absent altogether or is present in insufficient concentration.

Types of hemophilia

In medicine, there are three types of this disease.

1. Hemophilia A. It is caused by the lack or lack of coagulation factor VIII. The most common form of the disease is, according to statistics, 85 percent of all cases of the disease. On the average, one baby out of 10,000 is sick with just such a hemophilia.
2. Hemophilia B. With her, there are problems with the factor number IX. It is noted as much more rare: the risk of getting sick is six times lower than in case of variant A.
3. Hemophilia C. There is no factor number XI. This species is unique: it is peculiar to both men and women. Moreover, most often the Ashkenazi Jews are ill (which is generally uncharacteristic for any ills: they are usually international and equally "attentive" to all races, nationalities and nationalities). Manifestations of hemophilia C are also knocked out of the general clinical picture, so in recent years it has been removed from the list of hemophilia.

It is worth noting that in a third of families this disease occurs (or is diagnosed) for the first time, which is a blow to unprepared parents.

Why does the disease occur?

Her culprit is the congenital hemophilia gene, which is located on the X chromosome. Its carrier is a woman, and she herself is not a patient, unless there may be frequent nasal bleeding, too profuse menstruation or more slowly healing fine wounds (for example, after the tooth is ripped out). The gene is recessive, so not everyone with whom the mother is a carrier of the disease falls ill. Usually the probability is distributed 50:50. It rises if the father is sick in the family. Girls become carriers of the gene without fail.

Why hemophilia is a male disease

As already mentioned, the hemophilia gene is recessive and is attached to a chromosome, designated as X. Women have two such chromosomes. If one is affected by such a gene, it is weaker and suppressed by the second, dominant, so that the girl remains only the carrier through which hemophilia is transmitted, but she remains healthy. It is likely that at conception both X-chromosomes can contain the corresponding gene. However, when the fetus forms its own circulatory system (and this happens on the fourth week of pregnancy), it becomes unviable, and spontaneous abortion occurs (miscarriage). Since this phenomenon can be caused by different reasons, there is usually no research of self-abortive material, so there is no statistics on this issue.

Another thing is men. They do not have a second X chromosome, it is replaced by Y. There is no dominant "X", so if the recessive manifests itself, then it begins precisely the course of the disease, and not its latent state. However, since there are still two chromosomes, the probability of such a development of the plot is exactly half of all the chances.

Symptoms of hemophilia

They can be manifested even at the birth of a child, if the corresponding factor in the body is practically absent, and can only be felt over time if there is a defect in it.

1. Bleeding in the absence of obvious causes. Often a child is born with blood stains from the nose, eyes, navel, and stop the bleeding is difficult.
2. Hemophilia (photos show this) manifests itself as the formation of large edematous hematomas from absolutely insignificant effects (for example, pressing the finger).
3. Repeated bleeding from a wound that seems to have healed.
4. Increased domestic bleeding: nasal, from the gums even when cleaning teeth.
5. Hemorrhages in the joints.
6. Traces of blood in urine and feces.

However, such "signs" do not necessarily indicate exactly haemophilia. For example, nosebleeds can talk about the weakness of the walls of blood vessels, the blood in the urine - about kidney diseases, and in the stool - about the ulcer. Therefore, additional studies are required.

Detection of hemophilia

In addition to studying the patient's anamnesis and its examination by various specialists, laboratory analyzes are carried out. First of all, the presence of all coagulation factors in the blood and their concentration is determined. The time it took to coagulate the blood sample is set. Often, these tests are accompanied by a study of DNA. For a more accurate diagnosis, it may be necessary to define:

• Thrombin time;
• Mixed;
• Prothrombin index;
• Amount of fibrinogen.

Sometimes even more specialized data are requested. Of course, not every hospital is equipped with the appropriate equipment, so they are sent to the blood laboratory with suspicion of hemophilia.

Disease accompanied by hemophilia (photo)

The more characteristic hemophilia is the joint bleeding. The medical name is hemoarthrosis. It develops quite quickly, although it is most characteristic of patients with severe forms of hemophilia. They have hemorrhages in the joints without any external influence, spontaneously. In mild forms for the provocation of hemoarthrosis, trauma is required. The joints are affected first of all by those that experience stress, that is, the knee, thigh and stump. The second in turn - the shoulder, after them - the elbow. The first symptoms of hemoarthritis appear already in 8-year-old children. Because of joint injuries, most patients get disability.

Vulnerable organ: the kidneys

The disease of hemophilia very often causes the appearance of blood in the urine. It is called hematuria; Can proceed painlessly, although the symptom still remains alarming. Approximately half of cases of hematuria are accompanied by acute long pain. Quite often, renal colic caused by pushing blood clots on the ureters. The most common in patients with hemophilia is pyelonephritis, followed by the frequency of occurrence - hydronephrosis, and last place is occupied by capillary sclerosis. Treatment of all kidney diseases is complicated by certain restrictions on medications: nothing that helps to thin the blood, they can not be used.

Treatment of hemophilia

Unfortunately, hemophilia is an incurable disease that accompanies a person all his life. Not invented yet is the way that you can make the body produce the right proteins, if he does not know how to do it from birth. However, the achievements of modern medicine allow maintaining the body at a level at which patients with hemophilia, especially in not very severe form, can lead an almost normal existence. To prevent bruising and bleeding requires regular infusion of solutions of the missing coagulation factors. They are isolated from the blood of donor people and animals raised for donation. The introduction of drugs has a permanent basis as a preventive and curative in the case of an impending surgery or trauma.

In parallel, patients with hemophilia should constantly undergo physiotherapy to maintain the performance of joints. In the case of too large, become dangerous, hematomas surgeons make operations to remove them.

Since transfusions of drugs made on the basis of donor blood are required, hemophilia disease increases the risk of getting viral hepatitis, cytomegalovirus infections, herpes and, worst of all, HIV. No doubt, all donors are tested for the safety of their blood, but no one can give guarantees.

Acquired hemophilia

In most cases, hemophilia is inherited. However, there is a certain statistics of cases when it appeared in adults who had not previously had it. Fortunately, such cases are extremely rare - one to two people per million. Most get sick, being over 60 years old. In all cases, acquired hemophilia is a variant of A. It is noteworthy that the reasons for which it appeared were detected in less than half of the patients. Among them, cancerous tumors, the taking of certain medications, autoimmune diseases, very rarely - pathological, with severe leakage, late pregnancy. Why the others fell ill, the doctors could not be established.

Victorian disease

The first case of acquired disease is described in the example of Queen Victoria. For a long time, it was considered to be the only one of its kind, since neither before, nor nearly half a century after hemophilia was observed in women. However, in the twentieth century, with the advent of statistics on the acquisition of the royal disease, the unique queen can not be considered: hemophilia, which appeared after birth, is non-hereditary, does not depend on the sex of the ill.