Management of haemophilia in Malta

Abstract

Haemophilia is a blood clotting disorder in which one of the essential clotting factors is deficient, Haemophilia A, or Classical Haemophilia is the most common form and is due to the deficiency of Factor VIII. Haemophilia B, or Christmas Disease is due to the deficiency of Factor IX. Haemophilia is hereditary. It affects males almost exclusively and is passed on through unaffected females who carry the defective gene. However, between one quarter to one third of all occurrences appear in families with no previous history of the disorder. Once haemophilia appears it is then passed on in the same genetic pattern. Approximately one in 15,000 males has the disorder. In Malta there are 23 males who have haemophilia. It is a life long condition. The development of clotting factor concentrates has meant that it can be managed effectively. Bleeding is mostly internal. The deficiency in clotting episodes usually into the muscle joints. These bleeding episodes may occur spontaneously (apparently without cause, or as a result of trauma). The bleeding is stopped by the intravenous infusion of appropriate clotting factor. If internal bleeding is not quickly stopped with treatment it may result in pain and swelling. Over a period of time bleeding into joints and muscles can cause permanent damage, such as arthritis in the joint and chronic pain (Hilgartner et aI).