Saudi thrombosis and familial thrombophilia registry Design, rational, and preliminary results

To describe the Registry and report preliminary data for the prevalence of 5 prothrombotic gene mutations in the normal Saudi population. Blood from consenting healthy Saudi individuals and patients with venous thrombosis [VT] from different regions of the Kingdom was collected from November 2001 until July 2007. The extracted DNA of each sample was kept at -70°C until tested for 5 known prothrombotic factors using established methods. Only patients with confirmed VT were included. Data generated through direct interview were entered into the Saudi Thrombosis and Familial Thrombophilia [S-TAFT] Register. The consent and demographic data collection forms and the S-TAFT Register were developed using the SQL web based software. Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden [FVL], prothrombin [PT] 20210 G>A, 5-10 methylenetetrahydrofolate reductase [MTHFR] 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 [PAI-1 4G/5G], and factor V HR2 [FVHR2] haplotype. The incidence of FVL among healthy subjects was 1.3%, PT 20210 G>A 0.7%, homozygous MTHFR 677C>T 2.45%, PAI 4G/4G 10.1%, and FVHR2 26.1%. Our preliminary data from healthy Saudi individuals suggest that the incidence of the 5 prothrombotic risk factors is lower than in most other populations, except for FVHR2