Treatment of patients with haemophilia and the patients' perspective

摘要

Haemophilia is one of the most well-known rare diseases. It is so well known that most people do not even realise that haemophilia is a rare disease. Haemophilia is an X-linked genetic bleeding disorder caused by a deficiency of coagulation factor VIII (haemophilia A) or factor IX (haemophilia B). Severe forms are characterized by major bleeding after minor trauma.Effective treatment for haemophilia has become available in the last 45 years and consists of the administration of the deficient coagulation factor via intravenous administration. In the first decades, the coagulation factors were purified from human plasma. From the 1990s, recombinant (genetically engineered, rDNA) factor VIII or IX is gradually replacing the plasma products. When patients suffer severely from haemophilia, they are treated with prophylactic infusions a couple of times a week. The patients most often treat themselves at home or with the assistance of a family member. Monitoring of treatment usually takes place in centres of reference with a multidisciplinary approach. Advisory guidelines are developed for appropriate treatment [1].