For most ignorant people, hemophilia is the so-called royal disease, they know about it only from history: they say, Tsarevich Alexei suffered from it. Due to a lack of knowledge, people often believe that ordinary people cannot get hemophilia. There is an opinion that it affects only ancient genera. The same attitude for a long time was to "aristocratic" gout. However, if gout is a nutritional disease, and anyone can now be affected by it, then hemophilia is a hereditary disease, and any child whose ancestors had such a disease can get it.
What is hemophilia?
People call the disease "liquid blood". Indeed, its composition is pathological, in connection with which the ability to coagulate is impaired. The slightest scratch - and the bleeding is difficult to stop. However, these are external manifestations. Much more severe internal, occurring in the joints, stomach, kidneys. Hemorrhages inthey can be called even without extraneous influence and carry dangerous consequences.
Twelve special proteins are responsible for blood clotting, which must be present in the blood in a certain concentration. Hemophilia is diagnosed when one of these proteins is absent or present in insufficient concentration.
Types of hemophilia
In medicine, there are three types of this disease.
- Hemophilia A. Caused by the absence or deficiency of clotting factor VIII. The most common type of disease is, according to statistics, 85 percent of all cases of the disease. On average, one out of 10,000 babies has this type of hemophilia.
- Hemophilia B. With it, there are problems with factor number IX. Listed as much rarer, with a six times lower risk than A.
- Hemophilia C. Factor number XI is missing. This variety is unique: it is characteristic of both men and women. Moreover, Ashkenazi Jews are most often ill (which, in general, is not typical for any ailments: they are usually international and equally “attentive” to all races, nationalities and nationalities). The manifestations of hemophilia C are also out of the general clinical picture, so in recent years it has been removed from the list of hemophilias.
It is worth noting that in a third of families this disease occurs (or is diagnosed) for the first time, which becomes a blow for unprepared parents.
Why does disease occur?
It is caused by 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 nosebleeds, too heavy menstruation, or more slowly healing small wounds (for example, after a pulled out tooth). The gene is recessive, so not everyone who has a mother who is a carrier of the disease gets sick. Usually the probability is distributed 50:50. It rises if the father is also 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 the chromosome, designated as X. Women have two such chromosomes. If one is affected by such a gene, it turns out to be weaker and is suppressed by the second, dominant, as a result of which the girl remains only a carrier through which hemophilia is transmitted, but she herself remains he althy. It is likely that at conception, both X chromosomes may contain the corresponding gene. However, when the fetus forms its own circulatory system (and this happens in the fourth week of pregnancy), it becomes unviable, and spontaneous abortion (miscarriage) occurs. Since this phenomenon can be caused by various reasons, usually no research is done on self-aborted material, so there are 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",therefore, if the recessive manifests itself, then it is the course of the disease that begins, 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 chances.
Hemophilia symptoms
They can appear already at the birth of a child, if the corresponding factor in the body is practically absent, and can only make themselves felt over time, if there is a lack of it.
- Bleeding for no apparent reason. It is not uncommon for a baby to be born with streaks of blood from the nose, eyes, navel, and it is difficult to stop the bleeding.
- Hemophilia (photos show this) manifests itself in the formation of large edematous hematomas from an absolutely insignificant impact (for example, pressing with a finger).
- Repeated bleeding from a seemingly healed wound.
- Increased household bleeding: nasal, from gums even when brushing teeth.
- Hemorrhages in the joints.
- Traces of blood in urine and feces.
However, such “signs” do not necessarily indicate hemophilia. For example, nosebleeds can indicate weakness in the walls of blood vessels, blood in the urine - about kidney disease, and in the feces - about an ulcer. Therefore, additional research is required.
Hemophilia detection
In addition to studying the patient's history and examining him, laboratory tests are carried out by various specialists. First of all, the presence in the blood of all coagulation factors and their concentration is determined. Installedthe time it took for the blood sample to clot. Often these tests are accompanied by DNA testing. For a more accurate diagnosis, definition may be required:
- thrombin time;
- mixed;
- prothrombin index;
- fibrinogen levels.
Sometimes more highly specialized data is requested. Of course, not every hospital is equipped with the appropriate equipment, so people with suspected hemophilia are sent to a blood laboratory.
The disease that accompanies hemophilia (photo)
What is most characteristic of hemophilia is articular bleeding. The medical name is hemoarthritis. 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, trauma is required to provoke hemoarthritis. The joints are affected primarily by those that experience stress, that is, the knee, femoral and parietal. The second in line are the shoulder, after them - the elbow. The first symptoms of hemoarthritis appear already in eight-year-old children. Due to articular lesions, most patients are disabled.
Vulnerable Organ: Kidneys
Hemophilia disease very often causes blood in the urine. This is called hematuria; can proceed painlessly, although the symptom still remains alarming. In about half of the cases, hematuria is accompanied by acute, prolonged pain. Renalcolic caused by the pushing of blood clots through the ureters. The most frequent in patients with hemophilia is pyelonephritis, followed by hydronephrosis in frequency of occurrence, and the last place is occupied by capillary sclerosis. The treatment of all kidney diseases is complicated by certain restrictions on medications: nothing that thins the blood can be used.
Hemophilia treatment
Unfortunately, hemophilia is an incurable disease that accompanies a person all his life. A way has not yet been devised that can force the body to produce the necessary proteins if it does not know how to do this from birth. However, the achievements of modern medicine make it possible to maintain the body at a level at which patients with hemophilia, especially in a not very severe form, can lead an almost normal existence. To prevent bruising and bleeding, regular infusion of solutions of the missing clotting factors is required. They are isolated from the blood of human donors and animals raised for donation. The introduction of drugs has a permanent basis as a preventive measure and a therapeutic one in case of an upcoming operation or injury.
In parallel, patients with hemophilia must constantly undergo physical therapy to maintain joint performance. In the case of too extensive, which have become dangerous, hematomas, surgeons perform operations to remove them.
Because transfusions of drugs made from donated blood are required, hemophilia disease increases the risk of viral hepatitis, cytomegalovirus infections, herpes and, worst of all, HIV. Without a doubt, all donorsare tested for the safety of using their blood, but no one can give guarantees.
Acquired hemophilia
In most cases, hemophilia is inherited. However, there are certain statistics of cases when it manifested itself in adults who had not previously suffered from it. Fortunately, such cases are extremely rare - one or two people per million. Most get the disease when they are over 60 years of age. In all cases, acquired hemophilia is type A. It is noteworthy that the reasons for which it appeared were identified in less than half of the patients. Among them are cancerous tumors, taking certain medications, autoimmune diseases, very rarely - pathological, with a severe course, late pregnancy. Why the rest fell ill, the doctors could not establish.
Victorian disease
The first case of an acquired disease is described in the case of Queen Victoria. For a long time, it was considered the only one of its kind, since neither before nor almost half a century after hemophilia was observed in women. However, in the twentieth century, with the advent of statistics on the acquisition of royal disease, a unique queen cannot be considered: hemophilia that appeared after birth is non-hereditary, does not depend on the sex of the patient.
