Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients.

INTRODUCTION: Antithrombin and protein C gene deficiencies are commonly inherited risk factors for VTE patients. We aim to investigate the deficiency of these two gene in 202 Chinese patients with venous thromboembolism (VTE).

METHODS: Antithrombin activity (AT: A) and protein C activity (PC: A) were measured in 202 VTE patients, and for those with unexplainable low results, PCR and direct sequencing of the related genes were carried out.

RESULTS: Deficiency levels of antithrombin and protein C gene were found to be 2% and 8%, respectively. AT or PC hereditary deficiency can be found in 10% patients with VTE.

CONCLUSION: Protein C gene deficiency might be more prevalent than AT gene deficiency in Chinese VTE patients. Functional assay combined with genetic analysis is useful in the diagnosis of inherited defects in VTE patients.