Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

ABSTRACT: The clinical and genetic features of type 2 von Willebrand disease (VWD) have been described, but genotype-phenotype correlations in large cohorts remain incompletely understood. We investigated the relationship between von Willebrand factor gene (VWF) variants and bleeding severity in a large, well-characterized cohort of type 2 VWD patients, aiming to identify genetic determinants underlying clinical variability. Comprehensive laboratory evaluation, VWF molecular testing, in silico analyses, and bleeding assessment using the ISTH bleeding assessment tool (ISTH-BAT) were performed. Among 371 genetically confirmed cases, ISTH-BAT scores were available for 274 individuals: 83 with type 2A, 69 with 2B, 106 with 2M, and 16 with 2N. The highest bleeding scores were observed in type 2A (median

SUBMITTER: Seidizadeh O 

PROVIDER: S-EPMC12862308 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature