High prevalence of recurrent F8 genotypes in a series of Argentine patients with mild hemophilia A

ROSSETTI LC; MARCHIONE VD; RADIC CP; ABELLEYRO, M.M.; SANCHEZ LUCERO, ANALIA; NEME D; DE BRASI C

Londres

Congreso; XXVII Meeting of the International Society on Thrombosis and Haemostasis ISTH Congress and 65rd Annual Scientific and Standardization Committee (SSC).; 2019

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