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Bernard‐Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA

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of VWF:RCo/VWF:Ag was normal in the proband’s parents. Acquired von Willebrand syndrome (AVWS) related tests, such as lymphoproliferative, rheumatism and autoimmune antibody testing, were normal. Further investigation of the cause… Click to show full abstract

of VWF:RCo/VWF:Ag was normal in the proband’s parents. Acquired von Willebrand syndrome (AVWS) related tests, such as lymphoproliferative, rheumatism and autoimmune antibody testing, were normal. Further investigation of the cause of AVWS may be of great help. Correlation between FV and VWF has been reported previously. Dayer et al10 identified that FV might bind to VWF in the same way as FVIII. This result indicates that interaction between FVD and VWD may exist. There were some limitations of this work. Treatment such as oral administration of desmopressin was not performed to confirm the effect of decreased VWF on hematuria. In summary, the F5 c.5492T>C mutation was responsible for congenital FVD, and we are the first to report a rare case of congenital FVD and decreased VWF resulting in hematuria in a Chinese male patient.

Keywords: mutation; bernard soulier; pakistan biochemical; soulier syndrome; biochemical molecular; syndrome pakistan

Journal Title: Haemophilia
Year Published: 2018

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