The Missense Mutation Arg 593 r Cys Is Related to Antibody Formation in a Patient With Mild Hemophilia A

The development of inhibitory antibodies to factor VIII in substitution was introduced into the cDNA encoding the A2 patients affected by a mild form of hemophilia A (factor VIII domain of factor VIII and the resulting construct was exÛ 0.05 IU/mL) is considered a rare event. In this study, we pressed in insect cells. Strikingly, the metabolically labeled evaluated the relationship between genotype and anti-factor A2 domain carrying the Arg r Cys mutation was not recVIII antibody formation in a patient with mild hemophilia A. ognized by the anti-factor VIII antibodies present in the Mutation analysis showed that a missense mutation in the plasma of the patient. These data indicate that the antifactor VIII gene leading to replacement of Arg by Cys in factor VIII antibodies are exclusively directed against exogethe A2 domain of factor VIII was associated with hemophilia nous factor VIII. This strongly suggests that the Arg r Cys A in this patient. The anti-factor VIII antibodies present in substitution results in recognition of wild-type factor VIII as the patient’s plasma were characterized using metabolically nonself and is thereby related to the formation of anti-factor labeled factor VIII fragments expressed in insect cells. The VIII antibodies after factor VIII replacement therapy in this anti-factor VIII antibodies, composed of subclasses IgG2 and particular patient. IgG4, reacted with both the fragment corresponding to the q 1997 by The American Society of Hematology. factor VIII heavy chain and the A2 domain. The Arg r Cys