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.