Article
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity.
Journal of thrombosis and haemostasis : JTH - 1 Oct 2015
Yada K, Nogami K, Takeyama M, Ogiwara K, Wakabayashi H, Shima M
Abstract excerpt
BACKGROUND: In mild hemophilia A (MHA) patients, the risk of inhibitor development is generally low, but some factor VIII (FVIII) gene missense mutations are associated with a higher inhibitor incidence. OBJECTIVE: To investigate the mechanism(s) of inhibitor development in MHA. METHODS AND RESULTS: A patient, HA78, with MHA with a novel P1809L missense mutation in the A3 domain, exhibited significant residual...
Topics
- Antibody Specificity
- Autoantibodies
- Blood Coagulation
- Blood Coagulation Tests
- Complement C2
- Cross Reactions
- DNA Mutational Analysis
- Epitope Mapping
- Epitopes
- Factor VIII
- Genetic Predisposition to Disease
- Hemophilia A
- Humans