Women and Girls With Hemophilia and Hemophilia Carriers

The impact of hemophilia in affected women and girls is insufficiently recognized, resulting in suboptimal evaluation of bleeding symptoms, delay in diagnosis, and missed management opportunities. The aim of this collaborative International Society on Thrombosis and Haemostasis (ISTH) Scientific Subcommittee on Pediatric and Neonatal Thrombosis and Haemostasis, Factor (F)VIII, FIX, and Rare Coagulation Disorders, and Women’s Health Issues in Thrombosis and Haemostasis project is to provide guidance recommendations regarding screening and diagnosis of hemophilia carriers (HC)/women and girls with hemophilia (WGwH) in addition to the previously published revised nomenclature by the Scientific Subcommittee of the ISTH. We provide several guidance recommendations regarding the nomenclature, utilization of the ISTH-Bleeding Assessment Tool as a tool to quantify bleeding phenotype, FVIII/FIX assays for testing, assay discrepancy, genetic testing, and testing during pregnancy and postpartum, to help guide hemophilia providers to streamline the screening and diagnosis of HC/WGwH in a uniform manner. We hope that once the screening and diagnosis of HC/WGwH become a uniform standard practice globally, this will pave the way for global harmonization of terminologies and improved management, bringing gender equity in hemophilia care a step forward.