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Hemophilia A (Factor VIII Deficiency)

Craig D Seaman1, Frederico Xavier2, Margaret V Ragni3

  • 1Department of Medicine, Division Hematology/Oncology, University of Pittsburgh Medical Center, 3636 Boulevard of the Allies, Pittsburgh, PA 15213-4306, USA.

Hematology/Oncology Clinics of North America
|August 14, 2021
PubMed

Remarkable changes are occurring in the diagnosis and management of individuals with hemophilia A. Genetic testing, including next-generation sequencing, enables family planning, carrier testing, and prenatal diagnosis. Musculoskeletal ultrasound examination facilitates the early detection of acute bleeds and joint disease in clinic, enabling more rapid bleed resolution and treatment planning. Novel therapies offer simpler weekly or monthly administration, some by subcutaneous injection, with better compliance and quality of life, as well as fewer bleeds. Gene therapy provides a 1-time phenotypic "cure" that is cost effective, but may be complicated by waning levels, vector immune responses, and hepatotoxicity.

Keywords:
Gene therapyHemarthrosisInhibitorsNonfactor therapyUltrasoundprophylaxis

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