Hemophilia - a hereditary disease associatedin violation of coagulation (blood clotting process). In this disease there are bleeding into joints, muscles and internal organs, both spontaneous and as a result of injury or surgery.
In hemophilia dramatically increases the risk of deathby bleeding in the brain and other vital organs, even a minor injury. Patients with severe hemophilia become disabled due to frequent bleeding into joints (hemarthrosis) and muscle tissue (hematoma). Hemophilia refers to a hemorrhagic diathesis caused by a violation of plasma hemostasis (coagulopathy).
Types of hemophilia
Haemophilia occurs in early infancy because of the change of a single gene on chromosome X. There are three types of hemophilia (A, B, C).
Hemophilia A (recessive mutation in the X-chromosome)It caused by a genetic defect, in which the blood is not necessary protein - the so-called factor VIII (antihemophilic globulin). This is considered a classic hemophilia, it occurs most frequently in 80-85% of patients with hemophilia. Heavy bleeding with injuries and operations are observed at the level of factor VIII - 5-20%.
Hemophilia B is caused by a defective blood factor IX (recessive mutation in the X-chromosome), which resulted in the formation of a secondary coagulation broken cork.
With Hemophilia is caused by defective blood factor XI (autosomal recessive mutation), known mainly in Ashkenazi Jews.
Typically, men suffer from hemophilia (inheritance,sex-linked), women also act as carriers of hemophilia, who do it usually do not get sick, but patients may have sons or daughters-carriers.
The most famous carrier of haemophilia in the history ofwas Queen Victoria; apparently, this mutation occurred in her genotype de novo, because not registered in the family of her parents hemophiliacs. Theoretically, this could happen in the case if the father of Victoria was not in fact Edward Augustus, Duke of Kent, and any other man (hemophilia), however, no historical evidence for this exists. Hemophilia suffered one of Victoria's sons (Leopold, Duke of Albany), and a number of grandchildren and great-grandchildren (born to the daughters or granddaughters), including the Russian Tsarevich Alexei Nikolaevich.
Symptoms of hemophilia
The leading symptoms of hemophilia A and B areincreased bleeding in the first months of life, subcutaneous, intermuscular hematoma caused by bruises, cuts, a variety of surgical procedures. Manifestations of hemophilia is hematuria - blood in the urine, as well as abundant post-traumatic bleeding; hemarthrosises large joints, with secondary inflammatory changes that lead to the formation of contractures and ankylosis.
Diagnosis and treatment of haemophilia type
For the diagnosis of hemophilia are being identified clotting time, the addition of plasma samples with the absence of one of the clotting factors.
Although the disease is incurable to date, itDuring controlled by injecting the missing clotting factor, often isolated from donated blood. Some hemophiliacs develop antibodies against the protein substitute, which increases the required dose of factor, or use substitutes such as porcine factor VIII. In general, modern hemophiliacs with proper treatment live just as much as healthy people.