Naoki Egami, Masataka Ishimura, Masayuki Ochiai, Masako Ichiyama, Hirosuke Inoue, Souichi Suenobu, Toshiya Nishikubo, Keiji Nogami, Akira Ishiguro, Taeko Hotta, Takeshi Uchiumi, Dongchon Kang, Shouichi Ohga
OBJECTIVES: To determine the optimal management for early-onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)-, protein S (PS)-, or antithrombin (AT)-deficient patients of ≤20 years of age were studied in Japan. METHODS/RESULTS: Clinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One-hundred-one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18)...
December 28, 2023: Pediatric Blood & Cancer