The modern treatment of haemophilia: a narrative review.

Haemophilia A and B are X chromosome-linked bleeding disorders that are included among the rare diseases and are caused by mutations in the genes for factor VIII (FVIII) and factor IX (FIX)1. Both these clotting factors are part of the intrinsic pathway of blood coagulation. Individual with haemophilia may have severe, moderate or mild forms of the diseases, defined by factor plasma levels of 1% or less, 2 to 5% and 6 to 30%, respectively. The prevalence of haemophilia A is 1 case in 5,000 male live births, while that of haemophilia B is 1 case in 30,0002,3. Although patients with mild haemophilia usually bleed excessively only after trauma or surgery, those with severe haemophilia experience frequent episodes of spontaneous or excessive bleeding, particularly into joints and muscles, after minor trauma3. The modern management of haemophilia began in the 1970s and currently includes several plasma-derived and recombinant factor VIII products4. This article reviews the recent history, current knowledge, the most important progress and expected improvements in haemophilia care.