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Hamostaseologie 2020; 40(03): 311-321
DOI: 10.1055/a-1175-6530
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The Evolution of Hemophilia Care: Clinical and Laboratory Advances, Opportunities, and Challenges

Alice Trinchero
1   Center for Thrombosis and Hemostasis, University Medical Center Mainz, Johannes Gutenberg University, Mainz, Germany
2   Department of Clinical Oncology and Hematology, University Hospital Zurich, Zurich, Switzerland
,
Michelle Sholzberg
3   Hematology/Oncology, St. Michael's Hospital, Li Ka Shing Knowledge Institute, University of Toronto, Toronto, Ontario, Canada
,
Davide Matino
4   Department of Medicine, Hamilton, Ontario, Canada
5   Department of Medicine, McMaster University, Hamilton, Ontario, Canada
› Author Affiliations
Further Information

Publication History

12 February 2020

11 May 2020

Publication Date:
29 July 2020 (online)

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Abstract

Hemophilia A (HA) and B (HB) are X-linked bleeding disorders caused by mutations in the F8 or F9 gene that result in the absence, or reduced activity, of the corresponding clotting factor. The severity of bleeding and related complications is proportional to the amount of residual circulating functional factor. The development of a safe and effective hemophilia treatment lasted several decades and has been mainly based on clotting factor replacement. Advances in the engineering and manufacturing of clotting concentrates have led to the widespread availability of extended half-life products that reduced the number of intravenous infusions needed to achieve adequate trough levels. The recent development of new nonfactor replacement treatments and biotechnology techniques has offered therapeutic alternatives for hemophilia patients with and without inhibitors. These are characterized by an easier route of administration, low immunogenicity, and, regarding gene therapy and cell-based treatments, potential long-term protection from bleeding after a single treatment course. In this review, we analyze recent progresses in the management of hemophilia and discuss opportunities and challenges.

Keywords

hemophilia A/B - gene therapy - factor VIII - factor IX