Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A( IIC) von Willebrand disease phenotype in an Iranian patient.

The article presents a case study which identifies a new homozygous type 2A(IIC) mutation (p.Cys410Ser) in the von Willebrand factor D2 domain in an 8-year old Iranian patient with a heterozygous mutation in her parents and brother. The patient underwent treatments including factor VIII (FVIII) concentrate, cryoprecipitate, and Fresh Frozen Plasma. An overview of the von Willebrand disease is provided.