Hemophilia

Hemophilia is a genetic bleeding disease. It is a hereditary disease linked to the X chromosome, that is, it is suffered by men but transmitted by women.

Causes

Hemophilia is characterized by internal and external bleeding due to a deficiency of factor VIII. Hemophiliac children bleed longer than usual from minor injuries or trauma. In the blood there are substances that help the blood to clot when there is a wound, they are clotting factors. They form like a chain or cascade of work and some depend on others to function properly. All of them are important and, when any of them is defective, there are alterations in coagulation. If there is an alteration in coagulation, the bleeding caused by injuries or wounds cannot be solved because a good clot cannot be produced that blocks the blood outlet. In hemophilia, there is a deficiency of coagulation factor VIII. It is a factor that is linked to the X chromosome. The deficiency of this factor constitutes what we call Hemophilia type A, which is the most frequent (85% of cases). There are other types of hemophilia: B (clotting factor IX deficiency) and C (clotting factor XI deficiency), but they are very rare.

Symptoms

This disease manifests itself in the form of hemorrhages, bleeding that can occur without an apparent cause (spontaneous bleeding) or due to a blow or injury. Spontaneous hemorrhages are usually internal, especially in muscles and joints. If they take too long to resolve, they can damage joints and bones. Internal bleeding is more serious than external bleeding from cuts or wounds.

Treatment

Before, hemophilia was treated only with blood transfusions. In the 70-80s, it was only possible to extract clotting factors from the blood and the first plasma transfusions were carried out. Currently, advances in medicine allow deficient clotting factors to be synthesized to be administered to patients with hemophilia continuously or on demand to maintain blood with correct clotting capacity. This type of treatment gives the child a practically normal life. In the future it is hoped to be able to use gene therapy to replace the missing gene in hemophiliac children and, in this way, eliminate any substitution treatment.