title: The past and future of haemophilia: diagnosis, treatments, and its complications.
abstract: Haemophilia A and B are hereditary haemorrhagic disorders characterised by deficiency or dysfunction of coagulation protein factors VIII and IX, respectively. Recurrent joint and muscle bleeds lead to severe and progressive musculoskeletal damage. Existing treatment relies on replacement therapy with clotting factors, either at the time of bleeding (ie, on demand) or as part of a prophylactic schedule. The major complication of such therapy is the development of neutralising antibodies (ie, inhibitors), which is most frequent in haemophilia A. Treatment might improve considerably with the availability of new modified drugs, which might overcome existing prophylaxis limitations by reducing dosing frequency and thereby rendering therapy less distressing for the patient. Subcutaneous administration of some new therapies would also simplify prophylaxis in children with poor venous access. Gene therapy has the potential for a definitive cure, and important results have been obtained in haemophilia B. Despite improvements in haemophilia care, the availability of clotting factor concentrates for all affected individuals worldwide remains the biggest challenge.
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address: flora.peyvandi@unimi.it.
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.affiliation: Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Garagiola
authors.affiliation: The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA; University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
authors.forename: Guy
authors.initials: G
authors.lastname: Young
mesh_terms: D057134:Antibodies, Neutralizing / Q000276:immunology; D003029:Coagulants / Q000276:immunology / Q000627:therapeutic use*; D061345:Early Medical Intervention; D005164:Factor IX / Q000276:immunology / Q000627:therapeutic use*; D005169:Factor VIII / Q000276:immunology / Q000627:therapeutic use*; D015316:Genetic Therapy; D006467:Hemophilia A / Q000175:diagnosis / Q000276:immunology / Q000628:therapy*; D002836:Hemophilia B / Q000175:diagnosis / Q000276:immunology / Q000628:therapy*; D006470:Hemorrhage / Q000517:prevention & control / Q000628:therapy*; D006801:Humans
chemical_list: D057134:Antibodies, Neutralizing; D003029:Coagulants; D005169:Factor VIII; D005164:Factor IX