Article
The factor (F)VIII K1693N mutation (FVIII-Nara) in a patient with moderate hemophilia A confers resistance to thrombin-catalyzed cleavage at Arg1689 involving P4' position.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2025
Furukawa Shoko, Baatartsogt Nemekhbayar, Kawamura Takeshi, Horiuchi Kaoru, Doi Masaaki, Kashiwakura Yuji, Ohmori Tsukasa, Nogami Keiji
Abstract excerpt
BACKGROUND: Some patients with nonsevere hemophilia A (HA) are diagnosed with reduced factor (F)VIII activity (FVIII:C) relative to FVIII antigen (FVIII:Ag) and are classified as cross-reactive material-positive. We previously found a novel FVIII-Lys1693Asn (K1693N) natural mutation in a patient with HA with moderate phenotype (FVIII:C/FVIII:Ag = 1.9 IU/dL/124 IU/dL). OBJECTIVE: To examine the mechanism(s)...
Topics
- Humans
- Thrombin
- Hemophilia A
- Factor VIII
- Phenotype
- Mutation
- Blood Coagulation
- Arginine
- Cell Line
- Proteolysis