Nationwide Study on Factor V Deficiency in China: Clinical Characteristics, Genotype, and Treatment Approaches

This study characterizes China's largest FV-deficient cohort, identifying 13 novel F5 variants. Light chain variants predicted severe coagulation disorder, while on-demand FFP achieved effective haemostasis. High prevalences of menorrhagia (38.9%) and ovarian cysts (22.2%) in reproductive-age females highlight urgent needs for gender-specific interventions and management of this rare disorder.