IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
High prevalence of recurrent F8 genotypes in a series of Argentine patients with mild hemophilia A
Autor/es:
ROSSETTI LC; ABELLEYRO MM; DE BRASI CD; RADIC CP; NEME D; MARCHIONE VD; SÁNCHEZ LUCERO A
Lugar:
Melbourne
Reunión:
Congreso; 27th Biennial Congress of the International Society on Thrombosis and Haemostasis (ISTH); 2019
Institución organizadora:
International Society on Thrombosis and Haemostasis (ISTH)
Resumen:
Background: Hemophilia A (HA), the commonest X-linked coagulopathy, is associated with deleterious variants in the F8. Mild-HA patients show clotting activities of factor VIII (FVIII:C) ranging 5-40 IU/dL. Although mild-HA represents 35-40% of total HA cases, they are much less studied and genotyped than severe cases worldwide. Both the theoretical basis and the scarce related literature indicate that mild- and severe-HA (FVIII:C