Treatment of haemophilia: From replacement to gene therapy

Med Clin (Barc). 2021 Dec 24;157(12):583-587. doi: 10.1016/j.medcli.2021.04.031. Epub 2021 Sep 9.
[Article in English, Spanish]

Abstract

Haemophilia A and B are congenital bleeding disorders characterized by missing or defective factor VIII or factor IX, respectively. Factor replacement therapy has been the gold standard for prophylaxis and treatment of bleeding complications. However, the inconvenience of regular intravenous administration, along with progression of arthropathy and development of inhibitors has driven the need for alternative treatment options, such as extended half-life products, non-factor coagulation products, such as subcutaneous emicizumab, blocking natural anticoagulants (rebalancing haemostatic agents) and gene therapy, which have been useful to control bleeding or are currently under late-phase clinical investigation.

Keywords: Emicizumab; Extended half-life factors; Factores de vida media extendida; Gene therapy; Haemophilia; Hemofilia; Replacement therapy; Terapia génica; Terapia sustitutiva.

Publication types

  • Review

MeSH terms

  • Anticoagulants / therapeutic use
  • Factor VIII / genetics
  • Factor VIII / therapeutic use
  • Genetic Therapy
  • Hemophilia A* / drug therapy
  • Hemophilia A* / therapy
  • Hemorrhage / etiology
  • Hemorrhage / prevention & control
  • Hormone Replacement Therapy
  • Humans

Substances

  • Anticoagulants
  • Factor VIII