Landscape of Hemophilia A in Korea: Insights from Precision Diagnosis in Hemophilia A

초록

Hemophilia A(HA) is an X-linked recessive coagulation disorder associated with mutations of factor VIII (F8) gene. F8 gene mutation analysis is important for confirming the diagnosis, understanding genotype-phenotype correlations, and genetic counseling and family studies. According to the Korea Hemophilia Foundation (KHF) registry, a total of 1,835 patients with hemophilia A were recorded in Korea in 2024. Among them, 71% have severe disease, 15% had moderate disease, and 14% had mild disease. There is a lack of large-scale genomic data on HA in the Korean population. The purpose of this study is to identify causative mutations in the F8 gene in Korean patients with HA and to correlate mutation types with disease severity and the risk of inhibitor development.