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Hemophilia

Hemophilia

Hemophilia is a hereditary disorder associated with a bleeding disorder. This disease belongs to hemorrhagic diathesis, the cause of which is a violation of the plasma hemostasis. Hemophilia occurs as a result of a change in one gene on the X chromosome; two types of this disease are distinguished - A and B.

To make a diagnosis of hemophilia, it is necessary to determine the time it takes for blood to clot. Addition of plasma samples that lack one of the clotting factors is also used. There are about fifteen thousand hemophilia patients living in Russia. Of this number of patients, six thousand are children.

Treatment of the disease is a common clotting factor in the patient's vein. It's simple, but often impossible. Clotting factor concentrates are scarce and expensive. However, it is precisely such treatment that can prevent the complications of hemophilia and enable the patient to live a full life.

If the blood factor is introduced at the initial stages of the development of hemophilia, then the patient's general well-being and his condition improve markedly. Sometimes there is no need to re-enter the factor. Lack of treatment for this disease leads to disability and even death - it is in the absence of treatment that the reason lies in the fact that at the beginning of the twentieth century, the average life expectancy of a sick boy with this disease was about fifteen years.

Hemophilia is a blood clotting disorder. A patient with hemophilia often has hemorrhages in internal organs, muscles, and also in joints. Such hemorrhages can be caused by surgery or injury. However, they are often spontaneous, that is, they arise regardless of external factors. The possibility of hemorrhage is a threat to the patient's life, especially when it comes to the brain. Hemorrhage in the brain, as well as in other vital organs in a patient with hemophilia, can occur even with minor (for healthy people) injuries. If we are talking about a severe form of the disease, then patients suffer from frequently repeated hemorrhages in muscle tissues and joints, that is, we are talking about hematomas and hemarthrosis, respectively. Such patients are subject to disability.

Hemophilia is classified into two types. Hemophilia type A and B.

Hemophilia A is a recessive mutation on the X chromosome. Thus, hemophilia A is caused by a genetic defect. Hemophilia in this case results from the absence of antihemophilic globulin in the blood (defective blood factor VIII). Antihemophilic globulin is a protein necessary for normal life. Hemophilia A can be called classic, since hemophilia of this type occurs much more often than others and is observed in 80-85% of cases of all hemophilia diseases.

Hemophilia B is a recessive mutation on the X chromosome. Hemophilia type B is due to the presence of defective blood factor IX., With this type of hemophilia, the formation of a secondary coagulation plug is disturbed.

Hemophilia is a male disease. To some extent, yes. Indeed, the male part of the population suffers from the clinical manifestations of this disease. Women can be carriers of hemophilia. Without any external signs of this disease, a woman can pass it on to her child: a born boy may have clinical manifestations of hemophilia, and a girl may also be a carrier of the disease.

The diseases of hemophilia are known in history among the most famous personalities. So, we can say that the most famous carrier of this disease was Queen Victoria. It is obvious that the mutation that led to the disease occurred precisely in its genotype. Such a conclusion can be drawn from the analysis of the pedigree - after all, no one suffered from hemophilia in the families of her parents. The disease was inherited by the queen's son - Leopold - and a number of grandchildren and great-grandchildren - among them was the Russian Tsarevich Alexei Nikolaevich.

Bleeding is the main symptom of hemophilia. We are talking about increased bleeding. It manifests itself from the first months of a child's life. A patient with hemophilia, as a result of cuts (significant and seemingly harmless), bruises appear intermuscular, retroperitoneal, subcutaneous, subfascial hematomas. Also a symptom of this disease is the presence of hemarthrosis of large joints of the body. is Bleeding after suffering injuries are very profuse.

Hemophilia is an incurable disease. At this point in time, unfortunately, this is the case. However, the course of this serious illness can be controlled. Control is carried out using injections that contain the missing coagulation factor. This factor is usually isolated from the donor's blood. If we evaluate the life expectancy of a healthy person and a patient with hemophilia, then with appropriate proper treatment of the latter, it is approximately the same.

Hemophilia is a costly disease. Hemophilia, indeed, is recognized all over the world as one of the most costly diseases. This high cost is due to the fact that for the treatment of hemophilia, drugs are needed that are made from the blood plasma of donors. To understand how expensive the treatment is, the following data can be analyzed. For one patient with hemophilia, approximately thirty thousand international units of clotting factor concentrate are needed. Thirty thousand is one year. Such recommendations are given by the World Health Organization. One bottle, the volume of which is equal to five hundred international units, costs approximately two hundred US dollars. Thus, if we make a rather simple calculation, it turns out that one patient with hemophilia needs treatment, the cost of which is estimated at twelve thousand US dollars annually. But it is precisely the availability of the required amount of concentrates of blood clotting factors that affects the life of hemophilia patients - not only their well-being, but also their education, that is, it is this amount that determines whether the patient with hemophilia will be a full-fledged member of society.

Pain is one of the symptoms of hemophilia. Not certainly in that way. Severe pains (very severe) can bother patients only during periods of exacerbation of the disease. If such periods of exacerbation are observed often, then the patient may become dependent on potent pain medications. This is drug addiction or alcoholism. The intensity of pain can be reduced by using the aforementioned coagulation factor concentrates. They can also reduce the frequency of seizures. Thus, the use of these concentrates will give the patient the opportunity not to become drug addicts (in the literal sense of the word) already in childhood. At the moment, many children with hemophilia are unable to attend educational schools and are forced to spend a significant part of their lives in an apartment. Concentrates of coagulation factors VIII and IX are included in the composition of essential drugs - this is recognized by the Ministry of Health of the Russian Federation. However, in hospitals and other medical institutions, these drugs are usually not available, which, of course, is explained by the lack of funds in local budgets, and the responsibility for the purchase of these drugs lies entirely with the authorities of each individual constituent entity of Russia.

Patients with hemophilia in the Russian Federation are not provided with effective care. Treatment for these people is to use fresh frozen plasma (not clotting factor concentrate). Such treatment is fraught with the danger of contracting other diseases - in particular, life-threatening hepatitis and AIDS. However, it is also impossible to refuse treatment. In addition, the use of fresh frozen plasma in treatment often results in severe immune responses in hemophiliacs. But the plasma is often not enough - just donated blood is not enough.


Watch the video: Hemophilia A. Most Comprehensive Explanation. Hematology (January 2021).