Abstract

RUIZ-SAEZ, Arlette. Modern treatment of hemophilia and development of innovatives therapies. Invest. clín [online]. 2021, vol.62, n.1, pp.73-95.  Epub Dec 29, 2021. ISSN 0535-5133.  https://doi.org/10.22209/ic.v62n1a07.

Congenital hemophilia is a bleeding disorder caused by mutations in the F8 or F9 clotting factor genes in hemophilia A or in hemophilia B, respectively. The two types of hemophilia are clinically indistinguishable. The clinical phenotype is usually associated with the residual factor level and the main complication of the treatment is the appearance of neutralizing alloantibodies. The modern management of hemophilia began in the 1970s, with the availability of plasma-derived concentrates of coagulation factors, the implementation of prophylaxis programs and a multidisciplinary comprehensive care approach. Later, the therapeutic production of safer virally inactivated and recombinant coagulation factors, allowed for an individualized approach, and the production of bypass agents improved the management of patients with inhibitors. For all these options, the greatest challenge has been the need of life-long frequent intravenous infusions. Biotechnology has made possible the development of Factor VIII and IX concentrates with an extended half-life, as well as the production of therapies other than replacement therapy. These innovations improve clotting or inhibit the natural anticlotting ways. Finally, advances in gene therapy as a potential cure, are generating great expectations. All these advances have offered therapeutic alternatives for hemophilia patients with and without inhibitors. However, long-term safety and monitoring are important issues to be defined.

Keywords : hemophilia; treatment; innovations; gene therapy.

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