Treatment for hemophilia is based on substitution therapy!
Hemophilia disease is hereditary, it appears as a consequence of a change in one gene in the X chromosome and manifests itself in the incoherence of blood.
As a result of various injuries or operations, hemorrhages to the internal organs, muscles and joints can occur, which increases the risk of death from cerebral hemorrhage or vital organs. The disease occurs only in men, hemophilia in women do not occur - they are only carriers of the hemophilia gene.
In severe cases, patients often have to seek medical help because of hemorrhages in the muscles( hematomas) and joints( hemarthrosis).The disease can develop at any age, the earliest signs of hemophilia can appear when cutting the umbilical cord. In the first year of life, bleeding can begin with teething. But most parents discover hemophilia when the baby starts running, thereby increasing the risk of various injuries.
Types of hemophilia
There are three types of inheritance of hemophilia:
- Hemophilia A is a classical inhibitory form of hemophilia, manifested in 80% of all patients and causes insufficiency of antihemophilic globulin in the blood.
- Hemophilia B is manifested in a violation of the formation of a secondary coagulation plug and causes α-globulin deficiency in the blood.
- Hemophilia C causes insufficiency of y-globulin in the blood and can develop in women. Now this type is excluded from the classification because of the strong differences in the clinical manifestations of the other two types.
Hemophilia A and B are transmitted from the father of the daughter, but the girls do not get sick, but become carriers. If the mother passes her X chromosome, the son will not be sick.
Symptoms of
As with any disease, there are hemophilia symptoms:
- Hemorrhages in the joints( most often in the elbows, knees, ankles, less often - in the hip and shoulder), which can be accompanied by high fever and painful sensations. The first hemorrhages pass almost without a trace - the blood dissolves. With the following - clots are formed that remain on the cartilage and joint.
- Extensive hemorrhages, bruises, which dissolve very long. The blood that is poured out for a very long time remains in a liquid state and easily enters the tissues. Sometimes there are such large hematomas that the peripheral nerve trunks or arteries are compressed, which leads to paralysis and gangrene, accompanied by severe pain.
- Prolonged bleeding from the gums, nose, mouth, digestive tract and kidney. All medical procedures, including intramuscular injections, can lead to serious bleeding. Very dangerous bleeding from the larynx, which can cause severe obstruction of the airways. The most dangerous are hemorrhages in the brain and its membranes, which lead to death or serious damage to the central nervous system.
- Bleeding does not occur immediately after the injury, but after a period of time, depending on the severity of the injury, that is, it has a deferred character.
Diagnosis of hemophilia involves carrying out laboratory tests for blood coagulability - a coagulogram and determining the number of coagulation factors in the blood. It is especially important to conduct such studies before the operation, if there are cases of hereditary disease in males.
Hemophilia inheritance cases
Inheritance of hemophilia occurs on the female line.
A woman will necessarily be a carrier of a gene if:
- her father is sick with hemophilia;
- more than two sons are sick;
- is sick son and there are relatives of a male with this diagnosis;
A woman may be a carrier of a gene if:
- more than one maternal relative has hemophilia;
- none of the members of the family, except one son, are not sick.
Treatment of the disease
For the treatment of hemophilia with the help of replacement therapy concentrates of coagulation factors VIII and IX are used, the doses of which depend on the type of bleeding and the level of these factors in a particular patient. To treat haemophilia A, a cryoprecipitate made from fresh frozen plasma is used. For the treatment of hemophilia B, PPSB is used, in which there are Factors II, VII, IX and X.
All preparations for the treatment of hemophilia need to be injected intravenously, after resuscitation twice a day( for type A) and once a day( for type B).If there was a hemorrhage in the joint, the patient needs rest, and with very strong - puncture of the joint with the introduction of hydrocortisone, light massage, medical gymnastics and physiotherapy.
Pathogenetic treatment involves transfusion of hemopreparations with those clotting factors that the patient does not have. Especially effective is the use of cryoprecipitate. Often, direct blood transfusion is required.
Symptomatic therapy is used to treat patients with hemarthrosis( joint hemorrhage) with the use of glucocorticoids and the immobilization of affected joints. In case of wounds, they need to be cleaned of blood clots and washed with penicillin solution.
After this, a sterile dressing should be applied, which must first be moistened with a haemostatic agent. If type A is poured fresh blood, and type B - donor blood, which contains enough components of plasma thromboplastin. In order to stop bleeding, usually about 50 ml of blood is enough.
Prevention
Since the disease is incurable, prevention of hemophilia is impossible. It is important to prevent bleeding: do not inject drugs intramuscularly, visit the dentist 4 times a year, avoid physical exertion and injury.