Cysteamine enhances the procoagulant activity of Factor VIII-East Hartford, a dysfunctional protein due to a light chain thrombin cleavage site mutation (arginine-1689 to cysteine).

doi:10.1172/JCI115725

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Article

Cysteamine enhances the procoagulant activity of Factor VIII-East Hartford, a dysfunctional protein due to a light chain thrombin cleavage site mutation (arginine-1689 to cysteine).

The Journal of clinical investigation - 1 May 1992

Aly A M, Arai M, Hoyer L W

Abstract excerpt

We have recently identified the molecular defect responsible for cross-reacting material-positive hemophilia A in two unrelated patients in which the substitution of cysteine for arginine-1689 (Factor VIII-East Hartford[FVIII-EH]) abolishes a critical Factor VIII light chain thrombin cleavage sit...

Topics

Blood Coagulation
Cysteamine
Enzyme Activation
Factor VIII
Humans
Mutation
Oxidation-Reduction
Sulfhydryl Compounds
Sulfhydryl Reagents
Thrombin

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