Rare diseases treated by plasma proteins

When plasma is separated or recovered from a blood donation or when plasma is collected by plasmapheresis the end result is not just a fluid which can be used in the treatment of many medical conditions but a raw material which can be used for the production of specific life saving or life enhancing medications for a variety of conditions. These conditions include Haemophilia A and Haemophilia B, von Willebrands Disease a whole range of Primary Immunodeficiencies, Alpha 1 Antitrypsin deficiency, Guillain-Barré Syndrome, Hereditary Angioedema, Idiopathic Thrombocytopenic Purpura and Kawasaki Disease among others. Haemophilia is an inherited bleeding disorder caused by the absence or lower levels of coagulation Factor VIII or Factor IX. Haemophilia is caused by a defect on one of the X-chromosomes and therefore the condition is carried by females and presents almost exclusively in males. Some 30% of children with haemophilia are spontaneous mutations with no family history. The most common form of Haemophilia is Haemophilia A or Factor VIII deficiency. This occurs in 105 per million males and constitutes approximately 80% of the cases of Haemophilia. Haemophilia B or factor IX deficiency is less common and occurs in 28 per million males or 20% of cases. Haemophilia can be classified as severe, moderate or mild. An individual would be classified as having severe Haemophilia if their factor level is less than 1% of the normal factor level. A person with moderate haemophilia would have 1–5% of normal factor VIII level and mild would have 5–40%. Severe haemophilia is characterised by spontaneous bleeds into joints and muscles with the initial bleed often occurring when the child is less than 2 years of age. Life threatening bleeds such as bleeds into the central nervous system, intracranial bleeding and bleeding into the throat or internal bleeding can also occur. Initial treatment for haemophilia in the 1950’s and 1960’s consisted of whole blood or plasma. In the 1960’s Cryoprecipitate was used to treat Factor VIII deficiency and from the 1970’s Factor VIII and Factor IX deficiency have been treated with coagulation factor concentrates. Haemophilia A has been treated with Factor VIII concentrates since the early 1970’s and haemophilia B has been treated with Prothrombin Complex Concentrates since the 1970’s and with Prothrombin Complex Concentrates or specific Factor IX concentrates since the early 1990’s. Treatment can be on-demand where bleeding episodes are treated as they occur or prophylactically with Factor VIII three times a week or with Factor IX twice a week. This prevents the bleeds from occurring, minimises joint damage and allows the person