Application of Immunomagnetic beads and PCR methods for detection of pathogenic Vibrio parahaemolyticus in coastal water in Eastern Province of Saudi Arabia

Abstract

Von Willebrand disease (VWD) has been identified as the commonest inherited bleeding disorder in humans. The prevalence of this disease is as high as 1% in the general population. The objective of this study is to identify if any mutation that is unique to the Saudi population, which could be used to establish a diagnostic method for type 1 VWD in Saudi Arabia and help in management. In this study 22 index cases (IC) who were previously diagnosed with type 1 VWD were recruited, as well as 21 affected family members (AFM) and 17 unaffected family members (NAFM). All samples were collected from King Fahad Hospital of the University Al Khobar. For all participants, a bleeding score was recorded. ABO blood group and VWD basic and special screening tests were done. Mutation analysis was performed for all samples for the exons that have been most frequently reported, which are exons 18, 20, 26, 28 and 52. The phenotypic analysis showed that the bleeding score is significantly higher in the IC compared to the other groups, and the most common bleeding symptoms are menorrhagia, cutaneous bleeding and gum bleeding. VWF Ag level, Ristocetin cofactor assay and factor VIII levels were significantly lower in IC and AFM groups compared to NAFM and control groups. The mutational analysis showed 39 different variants, 25 of them are exonic and 14 intronic. 15 of the exonic variants are missense variants, while there were 7 synonymous variants identified. Most of the variants are normal benign variants. Two pathogenic variants were identified in exon 28 which are (c.3797C>A) and (c.3797C>T). To conclude, this study is a baseline for other studies to be conducted in Saudi Arabia with a larger number of participants, more exons to be analyzed and more cities to be included to give a better understanding of this disease.