Hemophilia

Hemophilia

is a disease that is hereditary, which is associated with a violation of blood coagulability. The process of coagulation is called coagulation. This disease belongs to hemorrhagic diathesis, the cause of which is the violation of plasma hemostasis. Hemophilia arises as a result of a change in one gene in chromosome X, two types of this disease are distinguished: A and B.

Hemophilia

To diagnose hemophilia it is necessary to determine the time that is necessary for blood clotting. Also, the addition of plasma samples in which there is no one of the coagulation factors is applied. In Russia, about fifteen thousand hemophiliacs live. Out of this number of patients, six thousand are children.

Treatment of a disease is the usual factor of blood clotting in a patient’s vein. It’s simple, but often impossible. Concentrates of clotting factor are deficient and expensive. However, it is precisely such a treatment that can prevent complications of hemophilia and allow the patient to have a full life.

If the blood factor is introduced at the initial stages of hemophilia development, the patient’s general health and well-being improve markedly. The need for repeated management of the factor sometimes does not arise. Lack of treatment for this disease leads to disability and even death – it is in the absence of treatment that the reason for the fact that at the beginning of the twentieth century the average life expectancy of a sick boy was about fifteen years by this disease.

Hemophilia – a violation of blood clotting.

A patient with hemophilia often has hemorrhages in the internal organs, muscles, and also in the joints. Such hemorrhages can be caused by surgery or trauma. However, often they are spontaneous in nature, that is, they arise regardless of external factors. The possibility of hemorrhage is a threat to the life of the patient, especially when it comes to the brain. Hemorrhage in the brain, as well as in other vital organs in a patient with hemophilia, may occur even if the injuries are not serious (for healthy people). If it is a serious form of the disease, the patients suffer from frequent hemorrhages in the muscle tissues and joints, that is, hematomas and hemarthroses, respectively. Such patients are disabled.

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

Hemophilia A is a recessive mutation in chromosome X. Thus, hemophilia type A is caused by a genetic defect. Hemophilia in this case arises as a result of the absence of antihemophilic globulin (defective factor of blood VIII) in the blood. Antigemophilic globulin is a necessary protein for normal functioning. Hemophilia A can be called classical, since hemophilia of this type is much more common than others and is observed in 80-85% of all cases of hemophilia.

Hemophilia B is a recessive mutation in the X chromosome. Hemophilia of type B is caused by the presence of a defective factor of blood IX., In this type of hemophilia, the formation of a secondary coagulation plug is disrupted.

Hemophilia is a male disease.

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

Haemophilia diseases are known in history among the most famous personalities.

So, we can say that the most famous bearer of this disease was Queen Victoria. It is obvious that the mutation that led to the disease occurred precisely in its genotype. This conclusion can be drawn from the analysis of the genealogy – after all, in the families of her parents, no one suffered from hemophilia.The disease was inherited by the son of the queen – Leopold – and a number of grandchildren and great-grandchildren – among them was the Russian Tsarevich Alexei Nikolayevich.

Bleeding is the main symptom of hemophilia.

It is about increased bleeding. It manifests itself from the first months of the child’s life. In patients with hemophilia as a result of cuts (significant and seemingly innocuous), 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 getting sick injuries are very abundant.

Hemophilia is an incurable disease.

To date, unfortunately, this is the case. However, the course of this severe disease can be controlled. Control is performed using injections that contain the missing clotting factor. This factor, as a rule, is released from the donor’s blood. If we estimate the life expectancy of a healthy person and a patient with hemophilia, then with proper proper treatment of the latter, it is approximately the same.

Hemophilia is an expensive disease.

Hemophilia, indeed, throughout the world is recognized as one of the most costly diseases. Such high cost is due to the fact that for the treatment of hemophilia, drugs that are made from donor blood plasma are needed. To understand how expensive the treatment is, you can analyze the following data. For one patient with hemophilia, approximately thirty thousand international units of coagulation factor concentrate are needed. Thirty thousand is for 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 about two hundred US dollars. Thus, if you make a fairly easy calculation, it turns out that one patient with hemophilia needs treatment, the cost of which is estimated at twelve thousand US dollars per year. But it is the presence of the required quantity of coagulation factors that determines the life of patients with hemophilia – not only their health, but also education, that is, the amount depends on the fact – whether a patient with hemophilia is a full member of society.

Pain is one of the symptoms of hemophilia.

Not exactly. Severe pain (very severe) can disturb patients only during periods of exacerbation of the disease. If such periods of exacerbation are observed often, the patient may get dependence on potent analgesics. It’s drug addiction or alcoholism. The intensity of pain can be reduced by applying the above coagulation factor concentrates. They are also able to reduce the frequency of seizures. Thus, the use of these concentrates will give the patient the opportunity not to become addicted (in the literal sense of the word) already in childhood. At the same time, many patients with hemophilia children are not able to attend educational schools and are forced to spend a significant part of life in the apartment. Concentrates of coagulation factors VIII and IX are part of essential medicines – 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 is explained, of course, by the lack of financial resources in local budgets, and the responsibility for purchasing these medicines lies entirely with the authorities of each individual subject of Russia.

Haemophilia patients in the Russian Federation are not provided with effective care.

The treatment of such people is the use of freshly frozen plasma (rather than a concentrate of clotting factor). Such treatment conceals the danger of infection with other diseases – in particular, life-threatening hepatitis and AIDS. However, it is also impossible to refuse treatment.In addition, the use of freshly frozen plasma in the treatment often leads to serious immune reactions in patients with hemophilia. But plasma is very often not enough – just donor blood is not enough.

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