Article
The mild phenotype in severe hemophilia A with Arg1781His mutation is associated with enhanced binding affinity of factor VIII for factor X.
Thrombosis and haemostasis - 1 Jun 2013
Yada Koji, Nogami Keiji, Wakabayashi Hironao, Fay Philip J, Shima Midori
Abstract excerpt
The clinical severity in some patients with haemophilia A appears to be unrelated to the levels of factor (F)VIII activity (FVIII:C), but mechanisms are poorly understood. We have investigated a patient with a FVIII gene mutation at Arg1781 to His (R1781H) presenting with a mild phenotype despite FVIII:C of 0.9 IU/dl. Rotational thromboelastometry using the patient's whole blood demonstrated that the clot time...
Topics
- Adult
- Arginine
- Factor VIII
- Factor X
- Factor Xa
- Gene Expression Regulation
- Genotype
- Hemophilia A
- Hemostasis
- Histidine
- Humans
- Kinetics
- Male
- Mutagenesis
- Mutation