- Hemophilia - a rare, but the disease sign
- Signs
Blood coagulation
Coagulation - this enzyme system by which the gradual transformation of the dissolved in the blood plasma fibrinogen to insoluble fibrin formation and on its basis clots in the blood vessels, stops the bleeding. In the conversion of soluble fibrinogen to insoluble fibrin involving several factors (first phase of blood coagulation - formation of thromboplastin second - thrombin third - fibrin). When failure of a factor is a disturbance of blood clotting.
What is hemophilia
Hemophilia - a hereditary disease related to violation of the first phase of blood coagulation (formation of thromboplastin), caused by deficiency of antihemophilic globulin (factor VIII) or plasma thromboplastin component (factor IX) and manifested by frequent and prolonged bleeding. The disease is caused by a mutation of the gene responsible for the biosynthesis of antihemophilic factor.
The disease is caused by a deficiency of factor VIII is called hemophilia A and factor IX deficiency - Hemophilia B or Christmas disease.
Hemophilia is inherited from grandfather to grandson through his mother apparently healthy for generations. Most hemophilia occurs hidden, and sometimes it is difficult to trace such a transfer. Ill it is restricted to males. This is a very rare disease: the incidence of hemophilia A is 1 in 10,000 male births, with hemophilia B - ½ 100,000.
Symptoms of hemophilia
Symptoms of hemophilia A and B do not differ from each other. The main symptom of hemophilia is bleeding. Severe bleeding occurs periodically, usually after one or two hours after the injury, sometimes very small. In some patients, bleeding associated with the seasons.
External bleeding can occur with small cuts, when cutting or removal of teeth, after surgery. Internal bleeding may start from minor injuries.
The first symptoms begin at birth when the umbilical cord transection. In the first year of life is most often bleeding from the mucous membranes of the nose and the mouth, 2-3 years bleeding manifested by bleeding in the joints and soft tissues in the 7-9 years join bleeding from the gums during teething and bleeding from internal organs. Patients kids periods of remission (state without exacerbation of the disease) is shorter than that of adults.
Hemophilia can occur as latent (asymptomatic), mild, moderate or severe form. Disease severity depends on the degree of deficiency of Factors VIII and IX.
Complications of Hemophilia
In hemophilia mild and severe complications are rare. Severe hemophilia complicated by extensive hematoma (accumulation of blood in a given area due to rupture of blood vessels), intracranial hemorrhage, dysfunction of joints after hemorrhage in them. There are also bleeding from internal organs, most often gastrointestinal bleeding and kidney.
The diagnosis of hemophilia
For diagnosis are important cases of family illness boys. Typical is also a sign of hemophilia. The final diagnosis was confirmed by laboratory tests of blood clotting (coagulation) and quantitative determination of blood clotting factors VIII and IX. Such research is particularly important in the survey prior to any operation.
Treatment of Hemophilia
Treatment of Hemophilia held in specialized hematology centers. When bleeding intravenous drugs concentrated clotting factor (in the absence of data on the type of hemophilia treatment is carried out as in hemophilia A). If these drugs are not available, the patient is administered a fresh or fresh frozen plasma. Sometimes hemostasis is achieved only by ligation of blood vessels, or with a special bioadhesives.
Currently there preparations containing the clotting factors, are not made from human blood, and the genetically engineered cells from the biomass (e.g., bacteria). This is the most effective and safe products, because they eliminate the viral infection from entering into the patient through a blood donor.
All blood products are expensive, and they require constant, it is clear that without government support such patients simply do not survive. Therefore, in civilized countries have national programs to support patients with hemophilia.
Galina Romanenko