A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

von Willebrand disease (VWD) represents one of the most common inherited hemorrhagic disorders in France with 1,980 patients identified in the FranceCoag network in December 2016.[1] The disease results from genetic defects generally localized in the von Willebrand factor (VWF) gene, defects that can either modify the function of the protein or affect its clearance and/or synthesis. In the French Caribbean island of Martinique, VWD prevalence in symptomatic subjects amounts to approximately 0.02% of the population. This work describes a new variant p.(Val510 = ), located in the D2 domain of VWF, in Martinican's families. This variant p.(Val510 = ) associated with the variant p.(Pro2145Thrfs *5) causes VWD type 3 (VWD3).