Acquired and inherited prothrombotic risk factors increase the risk of thrombosis in neonates, infants and children. After suffering thrombosis white paediatric patients should be screened for common gene mutations, i.e. the factor V G1691A, factor II G20210A and MTHFR C677T genotypes, rare inherited prothromboticrisk factors, i.e. deficiencies of protein C,protein S, and antithrombin, plasmino...

The C677T mutation of the methylenetetrahydrofolate reductase gene and the G1691A (Leiden) mutation of the factor V gene are established risk factors for thromboembolic disease. We here present an assay for the simultaneous genotyping of these common genetic variants. The assay involves a strategy based on multiplex mutagenically separated PCR performed in a single tube containing six primers. ...

CP# 02.01.08 Familial polyposis gene testing CP# 02.01.14 Gene expression profile testing for breast cancer CP# 11.04.02 Genetic testing for autism spectrum disorders CP# 02.01.02 Genetic testing for breast and ovarian cancer CP# 02.01.07 Genetic testing for cystic fibrosis CP# 00.01.03 Genetic testing for cytochrome p450 Polymorphisms (CYP2C19) CP# 05.01.03 Genetic testing for G1691A Polymorph...

In this issue of Blood, Holzhauer et al have determined a novel method of identifying patients with protein C, protein S, and antithrombin deficiency who are at increased risk of developing venous thromboembolism (VTE; see figure). Children with VTE and their relatives were screened for inherited thrombophilia including proteins C and S and antithrombin deficiency; and Factor (F)V G1691A and FI...

Aim: This study aimed to investigate the relationship between severe novel coronavirus pneumonia (NCP) and hypercoagulable conditions that predispose patients thrombosis such as prothrombin gene ( F2) rs1799963 (G20210A), factor V Leiden F5) rs6025 (G1691A) PAI-1 (rs1799768). Patients: NCP-diagnosed 62 previously healthy were enrolled for investigation of thrombophilia-related polymorphisms. Ma...

Currently, the established risk factors for cardiovascular disease (CVD) are largely environmental in nature. Conflicting studies have suggested that mutations in specific coagulation genes may also provide a genetic basis for CVD risk. We reviewed clinical studies that examined the role of single nucleotide polymorphisms in coagulation and platelet factors, and a biochemical factor to determin...