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Hemophilia is the inborn hemorrhagic disease caused by disturbance of synthesis of prothrombokinases — a factor of VIII or IX. Decrease in functional activity of prothrombokinases is the reason of insolvency of a coagulative hemostasis owing to sharp delay of activation of a blood coagulation.



Hemophilia reasons:

The genes responsible for displays of hemophilia are localized on X-chromosome and are recessive. Therefore males have hemophilia. Hemophilia And meets frequency of 1 on 5000, and a Cristmas disease — 1 on 30 000 newborn boys. Women, the carriers of a hemophilic gene having the second normal X-chromosome (heterozygotes) this disease do not suffer, except for the homozygotes having a double set of gonosomes with a pathological hemophilic gene are girls whose fathers are sick with hemophilia, and mothers are disease transmitters.
The hereditary nature of a disease is defined almost at 70% of patients with hemophilia. Other 30% fall on sporadic forms which are result of a mutation in the locus responsible for synthesis of factors of VIII or IX on X-chromosome.

Генетические аспекты заболеваемости гемофилией

Genetic aspects of incidence of hemophilia

Hemophilia symptoms:

Depending on the level of activity of a factor VIII or IX mark out three severity of hemophilia.
Clinically the disease is characterized by periodically repeating episodes of bleeding of different localization. Most often tendency to bleedings is shown at early age, but there are examples of late display of a disease, even after 20 years that is characteristic of easy forms of a disease. In spite of the fact that with hemophilia are born, at newborns bleeding, including after umbilical cord section is seldom noted. At the age of 5-6 months tendency to bleedings is noted at very few children. Usually at this age some parents notice raised bleeding, at language bridle anguishes, cutting of nails. First dentition usually is not complicated by bleeding, but the milk teeth in itself having very keen edges can become the reason of bleedings from mucous membranes of an oral cavity, after a bite of language, cheeks, a lip. When the child begins to rise, try to go, the possibility of traumatization increases. It falls more often owing to what at this age hematomas of a trunk and the head are the most characteristic. In the subsequent when the child starts walking and to run, there are hemorrhages in joints, is more often knee, loktenny, talocrural.
Origins of hemorrhages at patients with hemophilia are various. It can be an injury, organic changes (morphological) of mucous membranes. At a severe form of a disease "spontaneous" bleedings which reason remains obscure are observed. Operative measures at patients with hemophilia including extraction of teeth, are complicated by bleedings. It is characteristic that bleeding develops not right after an operative measure, and in several hours and several days and even can proceed weeks. This results from the fact that primary hemostasis (formation of a platelet stopper) at patients with hemophilia is not broken, but there are no conditions for formation of a stable secondary haemo static stopper because of blood coagulation disturbance.
Weight of clinical manifestations at hemophilia in many respects depends on level of a factor of VII1/1X. The it is higher, the probability of "spontaneous" bleedings is less. On the contrary, decrease in a factor of VIII/IX causes spontaneous recurrent episodes of bleeding, including hemorrhage in joints less. Hemorrhages in joints contribute to repeated hemorrhages in the same joint. With age weight and prevalence of joint defeat steadily progress that can lead to heavy dysfunction of a musculoskeletal system and disability to the patient. Extensive and intense hypodermic, intermuscular, subfascial and retroperitoneal hematomas are dangerous to patients with hemophilia. Such hematomas are painful, strained, sometimes flyuktuirut, causing anemia, fervescence, a neutrophylic leukocytosis because of what quite often are accepted to phlegmon and are opened that strengthens bleedings even more and complicates further treatment. Danger of such hematomas is that they squeeze surrounding fabrics and vessels, causing their nekrotizirovaniye, and also paralysis, contractures, sensitivity disturbance, an atrophy of muscles. Extensive hemorrhages in soft tissues of submaxillary area, a neck which can become the reason of a stenosis of upper respiratory tracts and asphyxia are especially dangerous. Hemorrhages in a head and spinal cord and their covers at patients with hemophilia are always connected with an injury and develop, as well as all bleedings in several hours and even days after an injury that it is important to remember to the doctor giving first aid by the patient with this pathology.

Гемартроз суставов при гемофилии

Hemarthrosis of joints at hemophilia


Significant assistance in diagnosis of hemophilia is given by detection of nature of inheritance. Existence of the hemorrhagic diathesis linked to a floor is the convincing proof of existence in a hemophilia family. This mode of inheritance is characteristic both of hemophilia And, and of a Cristmas disease (deficit of a factor of IX) which whether can be differentiated by means of a laboratory research.
The tests characterizing a platelet link of a hemostasis: quantity of thrombocytes, duration of bleeding and adhesive and aggregation indicators at patients with a Cristmas disease norm limits. Characteristic laboratory symptoms of hemophilia are disturbances of the indicators estimating an internal way of activation of a blood coagulation namely: increase in time of coagulation of a venous blood (can be within norm at activity of a factor VIII or IX higher than 15%), increase in APTV along with normal indicators of prothrombin and thrombin time. Decrease in coagulative activity of a factor of VIII or IX is decisive criterion for diagnosis and differentiation of hemophilia And or Century.

Differential diagnosis. Hemophilia And, especially moderately expressed disease forms, it is necessary to differentiate with an angiohemophilia of which decrease of the activity of a factor of VIII is also characteristic, but at the same time increase in a bleeding time, disturbance of aggregation of thrombocytes with Ristomycinum are observed that it is connected with deficit or qualitative defect of a factor of Villebrand.

Treatment of Hemophilia:

All patients with hemophilia have to undergo treatment in the specialized hemophilic centers or in the absence of those under observation of the hematologist specializing in treatment of patients with hemorrhagic diathesis. The principles of treatment of hemophilia And yes In are identical, distinctions only in the choice of drugs and the mode of replacement therapy. The main therapeutic actions at patients with hemophilia are directed to substitution of a scarce factor both during hemorrhagic manifestations, and with the preventive purpose. The purpose of preventive treatment — to prevent development of a gemofilichesky arthropathy and other heavy bleedings. Preventive treatment in the form of regular injections of concentrates of factors of VIII or IX 2 — 3 time a week is recommended to all patients with heavy hemophilia. At appointment with the replaceable purpose of haemo static drugs (concentrates of factors of VIII or IX, received from plasma of the person or by means of gene technology) the doctor has to remember that after a transfusion activity of a factor of USh in the patient's blood quickly decreases and in 12 hours in circulation there is only a half from originally entered dose. Therefore repeated transfusions of haemo static drugs are necessary each 12 hours for a full stop of bleeding. The entered factor of IX circulates in blood of the recipient from 18 to 30 hours therefore for maintenance of its haemo static level it is enough to administer the drug of times a day. The choice of drug and its dose for stopping of bleedings at patients with hemophilia are defined by intensity of hemorrhages or if the patient needs operational treatment — assumed surgical intervention. Efficiency of treatment in many respects depends on starting date of haemo static therapy. The greatest effect is reached at administration of drugs within the first hour after emergence of signs of bleeding.
Outside bleedings from the injured skin, bleedings from mucous membranes of a nose, an oral cavity can be stopped both by administration of anti-hemophilic drugs, and local influences - processing of the bleeding site the thrombin, a tampon moistened 5-6% with solution of aminocapronic acid, a compressing bandage. In need of suture it is necessary to remember that for patients with hemophilia it is an additional injury which can aggravate bleeding. Therefore this procedure has to be followed by introduction of hemostatics.
As additional therapy desmopressin and inhibitors of a fibrinolysis — traneksamovy acid can be used. These drugs are preferential used for a stop of small bleedings, including from mucous membranes after extraction of tooth.
The medicines of antiinflammatory action containing acetylsalicylic acid are contraindicated to patients with hemophilia. Appointment them (including aspirin), even in small doses (to 100 mg/days of acetylsalicylic acid), can become the reason of heavy bleedings in connection with  oppression of function of thrombocytes which remains from 5 to 7 days after a single dose of drug.
One of the factors contributing to bleeding at patients with hemophilia is the infection which causes an inflammation in fabrics, increase in a krovenapolneniye of vessels in the struck area. Usual colds and cold - the frequent reasons of nasal bleedings, hemorrhages in throat tissues, and a gastroenteritis — heavy hemorrhages at patients with hemophilia. Therefore the centers of infections should be liquidated as soon as possible. At this stage the doctor has to avoid whenever possible purpose of vmutrimyshechny injections because of danger of developing of a hematoma on site of a prick.
In need of their performance the volume of injections should not exceed 2 ml, and the place of a prick should be pressed a finger for 5 minutes. At catarrhal diseases of the patient it is impossible to appoint banks. It can promote pulmonary bleeding, especially at small children. As for food of patients with hemophilia, it does not differ from usual. The hot and spicy dishes causing a hyperemia of mucous membranes of digestive tract, and also seasoning with vinegar which inhibits functional activity of thrombocytes like acetylsalicylic acid are not recommended.
Complications of replacement therapy at patients with hemophilia. Owing to frequent transfusions of blood preparations approximately at 30% of patients with hemophilia And antibodies to a factor of VIII develop. At a Cristmas disease the frequency of emergence of inhibitor is lower. Antibodies block procoagulant activity of the entered factors of VIII and IX, and it can become the reason of inefficiency of haemo static therapy in usually accepted volumes. The caption of inhibitors is measured in units Bethesda (BE). One BE represents amount of inhibitor which inactivates 50% of one unit of the factor of VIII entered into test system in 2 hours of an incubation at a temperature of 37 °C. Patients with a low caption of inhibitor (less than 5 — 10 BE) can be treated the raised factor doses. At patients with a high caption of inhibitor (more than 10 BE) the haemo static effect can be reached only at administration of drugs of the shunting action, namely recombinant activated factor of Vila (Novoseven) or the activated concentrate of a prothrombin complex (ARSS). Patients with an inhibitory form of hemophilia should not carry out surgical interventions without approval of the hematologist, it is necessary to avoid unreasonable purposes of blood preparations as it can cause a bigger increase in a caption of inhibitor.
The described preventive actions and the principles of replacement therapy at assistance to patients with hemophilia are applicable for all patients with various forms of coagulopathies which are subject to observation and treatment in the specialized hematologic centers.
Patients with moderately expressed form of hemophilia And usually have no special complications. Heavy bleedings at them develop only after surgeries, damages and injuries. Patients with a severe form of a disease suffer from frequent recurrent bleedings which lead to irreversible deformations of joints — the main reason for disability. The regular appeal of such patients to the specialized hemophilic centers where out-patient treatment is organized by haemo static drugs, considerably reduces the frequency of bleedings and prevents development of disabling complications. Though broad use of replaceable drugs also increased life expectancy of patients with hemophilia, however lethal outcomes from bleedings yet not an unusual occurrence.
Indications to hospitalization. Patients with gastrointestinal, renal, pulmonary bleedings, with hematomas of the head, neck, eabryushinny hematomas, an extensive hemarthrosis, and also wounds which demand suture are subject to urgent hospitalization.

Drugs, drugs, tablets for treatment of Hemophilia:

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