Advancing care for women and girls with haemophilia: evidence from a comprehensive longitudinal analysis

Authors: Miesbach,W

Affiliations: Medical Clinic 2, Institute of Transfusion Medicine, University Hospital Frankfurt, Frankfurt, Germany.

Publication: Res Pract Thromb Haemost ; 2025; 9. 103232

ABSTRACT: Hemophilia, caused by mutations in the F8 and F9 genes that result in deficiencies of coagulation factor (F)VIII and FIX, respectively, has undergone a remarkable transformation through the development of factor replacement therapy, subcutaneous treatments, and comprehensive prophylactic strategies. These advances have not extended equitably to all populations, particularly women and girls with bleeding disorders. The marginalization of women’s bleeding symptoms in hemophilia spans over 2 centuries. Therapeutic innovations and clinical research in hemophilia have predominantly focused on male patients, leaving women and girls frequently excluded from these advancements. Female hemophilia carriers (HCs)—those who inherit 1 abnormal X chromosome—may nonetheless exhibit bleeding symptoms. This occurs through X chromosome inactivation mechanisms, which can significantly reduce their factor levels even when a normal gene copy is present.