Scientific Journal of

  Abstract

 Background and Objectives

 Von Willebrand Disease is an autosomal inherited coagulation disorder that is caused by quantitative or functional defects in vWF. ‎ In 2007, R2185Q ‎ was described as a vWD type 1 mutation in the Canadian population. Recent studies conducted on healthy people showed that ‎ the R2185Q variant can be present in normal individuals. The purpose of this study was to evaluate the frequency of vWF gene R2185Q variant ‎ .

 Materials and Methods

 In this descriptive study, 297 Iranian healthy individuals were evaluated. The subjects were interviewed for bleeding history and other relative symptoms. DNA was extracted by salting out methods from 5 ml of blood samples. Using PCR-RFLP, the samples were genotyped and the results were confirmed by sequencing.

 Results

 The study was performed on healthy individuals from both sex and different Iranian ethnic groups. Two individuals without any bleeding history were found to carry this allele in a heterozygote manner. The allele frequency was calculated 0.33% which was below 1% and thereby could not be considered as a polymorphism.

 Conclusions

 vWF gene contains various mutation and polymorphisms which are population specific. To understand the Iranian pattern, more studies should be done to reveal this characteristic.