For the majority of uninformed people, hemophilia is the so-called royal disease, they know about it only from history: they say that Tsarevich Alexey suffered from it. Due to lack of knowledge, people often believe that ordinary people cannot get hemophilia. It is believed that it affects only the ancient birth. The same attitude for a long time was to the "aristocratic" gout. However, if gout is a nutritional disease, and any person can 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?
The people call the disease "liquid blood." And 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 in them can be caused even without outside influence and carry dangerous consequences.
For blood coagulation are twelve special proteins that must be present in the blood in a certain concentration. A hemophilia disease is diagnosed if one of these proteins is absent altogether or is present in insufficient concentration.
Types of hemophilia
In medicine, three types of this disease are distinguished.
- Hemophilia A. Caused by the absence or lack of coagulation factor VIII. The most common type of disease is, according to statistics, 85 percent of all cases of the disease. On average, one infant out of 10 thousand is sick with just such hemophilia.
- Hemophilia B. With it, there are problems with factor IX. Marked as much more rare: the risk of getting sick with it is six times lower than in case of option A.
- Hemophilia C. Factor XI is missing. This variety is unique: it is characteristic of both men and women. Moreover, Ashkenazi Jews are most often sick (which is generally uncharacteristic of any ailments: 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 becomes a blow to unprepared parents.
Why does the disease occur?
Her culprit is the congenital hemophilia gene, which is located on the X chromosome. The carrier is a woman, and she herself is not a patient, except that frequent nosebleeds, too heavy menstruation, or more slowly healing small wounds (for example, after a tooth is pulled out) can be observed . The gene is recessive, so not everyone with a mother who carries 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 the carrier through which hemophilia is transmitted, but she remains healthy. 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 occurs 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 studies of self-abortion material are performed, so there is no statistics on this issue.
Men are another matter. They do not have a second X chromosome, it is replaced by Y. There is no dominant “X”, so if the recessive one 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 plot development is exactly half of all chances.
Symptoms of Hemophilia
They can occur even at the birth of a child, if the corresponding factor in the body is practically absent, and can make themselves felt only with time, if there is a lack of it.
- Bleeding in the absence of obvious reasons. Often a child is born with blood streaks from the nose, eyes, navel, and it is difficult to stop the bleeding.
- Hemophilia (photos demonstrate this) manifests itself in the formation of large edematous hematomas from absolutely insignificant effects (for example, finger pressing).
- Repeated bleeding from a seemingly already healing wound.
- Increased domestic bleeding: nasal, from the gums, even when brushing your teeth.
- Joint hemorrhages.
- Traces of blood in urine and feces.
However, such "signs" do not necessarily indicate precisely hemophilia. For example, nosebleeds can indicate weakness of the walls of blood vessels, blood in the urine - about kidney diseases, and in feces - about an ulcer. Therefore, additional studies are required.
Hemophilia detection
In addition to studying the patient’s history and examining him, a variety of specialists conduct laboratory tests. First of all, the presence in the blood of all coagulation factors and their concentration is determined. The time it took to coagulate a blood sample is set. Often, these analyzes are accompanied by DNA testing. For a more accurate diagnosis, you may need to determine:
- thrombin time;
- mixed;
- prothrombin index;
- the amount of fibrinogen.
Sometimes more specialized data is requested. Of course, not every hospital is equipped with appropriate equipment, therefore, with suspicion of hemophilia, they are sent to a blood laboratory.
The disease that accompanies hemophilia (photo)
The most characteristic hemophilia is articular bleeding. The medical name is hemoarthrosis. It develops rather quickly, although it is most characteristic of patients with severe hemophilia. They have hemorrhages in the joints without any external influence, spontaneously. In mild forms, trauma is required to provoke hemarthrosis. The joints are affected primarily by those that experience stress, that is, the knee, femoral and pedicle. The second in line - the shoulder, after them - the elbow. The first symptoms of hemarthrosis are already evident in eight-year-old children. Due to articular lesions, most patients receive a disability.
Vulnerable organ: kidney
Hemophilia disease very often causes the appearance of blood in the urine. This is called hematuria; it can be painless, although the symptom is still alarming. In about half the cases, hematuria is accompanied by acute, prolonged pain. Renal colic caused by pushing blood clots through the ureters is frequent. Most often in patients with hemophilia, pyelonephritis, followed by the frequency of occurrence - hydronephrosis, and capillary sclerosis takes the last place. The treatment of all renal diseases is complicated by certain restrictions on medications: nothing that helps to thin the blood, they can not be used.
Hemophilia treatment
Unfortunately, hemophilia is an incurable disease that accompanies a person all his life. Not yet invented a way in which you can force the body to produce the necessary proteins, if he 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 hematomas and bleeding, a regular infusion of solutions of the missing coagulation factors is required. They are isolated from the blood of human donors and animals raised for donation. The introduction of drugs has an ongoing basis as a prophylaxis and therapeutic in case of an upcoming operation or injury.
In parallel, patients with hemophilia should constantly undergo physiotherapy to maintain joint health. If the hematomas become too extensive and become dangerous, surgeons perform operations to remove them.
Since transfusions of drugs based on donated blood are required, hemophilia increases the risk of getting viral hepatitis, cytomegalovirus infections, herpes and, worst of all, HIV. Without a doubt, all donors are tested for the safe use of 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 appeared in adults who had not previously had it. Fortunately, such cases are extremely rare - one or two people per million. Most get the disease when they are over 60. In all cases, acquired hemophilia is a type A. It is noteworthy that the reasons why it appeared were revealed in less than half of patients. Among them, cancerous tumors, taking certain medications, autoimmune diseases, very rarely pathological, with a severe course, late pregnancy. Why the others fell ill, doctors could not establish.
Victorian disease
The first case of an acquired disease is described by the example of Queen Victoria. For a long time, it was considered one of a kind, since not before it, or almost half a century after hemophilia in women was not observed. However, in the twentieth century, with the advent of statistics on the acquisition of tsar’s disease, the queen cannot be considered unique: hemophilia that appeared after birth is not inherited, it does not depend on the sex of the patient.