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Hemophilia, the disease
Hemophilia is an inherited disease characterized by bleeding. Normally, when a blood vessel is damaged, proteins called clotting factors form a clot to stop bleeding. In a person with hemophilia, clotting factor is missing or damaged. As a result, the clot does not form well, and the bleeding is difficult to stop.The different forms of hemophilia
Hemophilia is classified according to its severity. If the clotting factor operates between 5 and 30% of its capacity, hemophilia is a minor. The bleeding risk is then low, with no bleeding outside of an injury. Between 1 and 5%, it is a moderate hemophilia. The bleeding risk is more pronounced, but only in cases of significant injury. Finally, in severe hemophilia, clotting factor operating at less than 1%. Bleeding is common and bleeding can occur without apparent reason. Hemophiliacs are also classified by the coagulation factor deficiency: hemophilia A (factor VIII), B (factor IX) and C (factor XI).Cause of Hemophilia
Hemophilia is a genetic disease caused by a defective gene. The disease is transmitted by mothers to their son. Indeed, genes implicated in hemophilia is carried on the X chromosome But girls receive an X chromosome from their mother and one from their father. Thus, a defective gene may be compensated by the equivalent of one X chromosome The little girl will be a carrier damaged, it may pass, but it will not trigger the disease. By cons, among boys, the defective genes on the X chromosome inherited from the mother will not be compensated (the father passes a Y chromosome). There is also a rare case of hemophilia C affecting girls. Finally, in 30% of cases, hemophilia is caused by spontaneous mutation of a gene.Symptoms of Hemophilia
Apart from serious injury, bleeding outside are usually mild. It is mostly internal bleeding should be monitored. Symptoms will obviously depend on the severity of the disease. The first manifestations may occur as early as 3 months or as soon as the child begins to move. It will then present blue surface at the knees. Growing up, bruising may occur in the muscles (bumps after a shock). It can also be painful bleeding into joints (hemarthrosis). Finally, in severe cases, bleeding can affect particularly sensitive areas (brain, abdomen, chest ...). All internal bleeding should be managed to avoid complications.Hemophilia
There is currently no cure for hemophilia. For cons, the patient can be injected clotting factors to compensate for his illness. These substitutes are primarily derived from donated blood plasma or produced by genetic engineering (recombinant products). The treatment can be administered to stop bleeding or as part of a preventive treatment (severe hemophilia). Gentle physical therapy may also be prescribed to limit the consequences in case of joint hemarthrosis. Sometimes surgery is planned to evacuate a hematoma too high. Psychological support may eventually help the patient and his family live better his hemophilia.
Hemophilia is an inherited disease characterized by bleeding. Normally, when a blood vessel is damaged, proteins called clotting factors form a clot to stop bleeding. In a person with hemophilia, clotting factor is missing or damaged. As a result, the clot does not form well, and the bleeding is difficult to stop.The different forms of hemophilia
Hemophilia is classified according to its severity. If the clotting factor operates between 5 and 30% of its capacity, hemophilia is a minor. The bleeding risk is then low, with no bleeding outside of an injury. Between 1 and 5%, it is a moderate hemophilia. The bleeding risk is more pronounced, but only in cases of significant injury. Finally, in severe hemophilia, clotting factor operating at less than 1%. Bleeding is common and bleeding can occur without apparent reason. Hemophiliacs are also classified by the coagulation factor deficiency: hemophilia A (factor VIII), B (factor IX) and C (factor XI).Cause of Hemophilia
Hemophilia is a genetic disease caused by a defective gene. The disease is transmitted by mothers to their son. Indeed, genes implicated in hemophilia is carried on the X chromosome But girls receive an X chromosome from their mother and one from their father. Thus, a defective gene may be compensated by the equivalent of one X chromosome The little girl will be a carrier damaged, it may pass, but it will not trigger the disease. By cons, among boys, the defective genes on the X chromosome inherited from the mother will not be compensated (the father passes a Y chromosome). There is also a rare case of hemophilia C affecting girls. Finally, in 30% of cases, hemophilia is caused by spontaneous mutation of a gene.Symptoms of Hemophilia
Apart from serious injury, bleeding outside are usually mild. It is mostly internal bleeding should be monitored. Symptoms will obviously depend on the severity of the disease. The first manifestations may occur as early as 3 months or as soon as the child begins to move. It will then present blue surface at the knees. Growing up, bruising may occur in the muscles (bumps after a shock). It can also be painful bleeding into joints (hemarthrosis). Finally, in severe cases, bleeding can affect particularly sensitive areas (brain, abdomen, chest ...). All internal bleeding should be managed to avoid complications.Hemophilia
There is currently no cure for hemophilia. For cons, the patient can be injected clotting factors to compensate for his illness. These substitutes are primarily derived from donated blood plasma or produced by genetic engineering (recombinant products). The treatment can be administered to stop bleeding or as part of a preventive treatment (severe hemophilia). Gentle physical therapy may also be prescribed to limit the consequences in case of joint hemarthrosis. Sometimes surgery is planned to evacuate a hematoma too high. Psychological support may eventually help the patient and his family live better his hemophilia.
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