R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype

Abstract

Von Willebrand disease (VWD) type 2 comprises the qualitative defects of VWF molecule (1). Among them, VWD 2N is the result of mutations in the D’ or D3 domains in the N-terminal region that cause VWF with a defective binding capacity to FVIII, resulting in the premature degradation of FVIII (2). Heterozygous individuals are generally asymptomatic, but homozygotes and compound heterozygotes have phenotypes mimicking hemophilia A (3). The presence of confounding genetic factors, such as those conferred by VWD type 1, would explain the variability in phenotype.