Hemophilia - also known as bleeding disorder - is an inherited disease. Men are particularly affected. Due to a change on the X chromosome, too little coagulation factor is formed, which means that bleeding does not stop in the usual time. As a result, injuries such as bruises, i.e. hematomas, often become disproportionately large and general wound healing can be severely delayed, as summarized by the German Hemophilia Society (DHG).
Usually only one of about 13 different coagulation factors is affected in the narrower sense of the two known forms of hemophilia. In hemophilia A, for example, it is coagulation factor VIII, in variant B it is coagulation factor IX.
A novel treatment now corrects the genetic defect in variant B that causes people's blood to have trouble clotting and stopping bleeding. According to the BBC, patients who took part in the study in which the therapy was tested report that their lives now feel "completely normal".
Those affected by the hemophilia are usually unable to produce enough of the so-called coagulation factor IX. For example, if you cut yourself and the wound becomes crusted, clotting factor IX is one of the proteins that stops the bleeding. Patients are now being vaccinated with factor IX during the new therapy in order to prevent - in the worst case fatal - bleeding.
Through the injections, an artificial virus gets into the body, which is filled with the components of the missing factor IX. The virus then behaves like a microscopic transporter, delivering information about the added components to the liver, which then starts producing the clotting protein on its own.
The results of the study, published in the New England Journal of Medicine, showed that nine out of ten patients who were given the therapy did not need any additional injections afterwards. "I haven't had any treatment since I had my therapy, it's really all a miracle. Well, it's science, but it feels pretty wonderful to me," says Elliott Mason, one of the study participants in an interview with the " BBC".
The research team hopes that the majority of adults with hemophilia could be cured in the next three years with the research results that have now been obtained, because there are "many young patients with excruciating torment" worldwide, says Prof. Pratima Chowdary from the Royal Free Hospital and University College London, who needed urgent help.
Sources: "New England Journal of Medicine", BBC, DHG
