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Deficiency of antithrombin and protein C gene in 202 C hinese venous thromboembolism patients
Author(s) -
Gu Y.,
Shen W.,
Zhang L.,
Zhang J.,
Ying C.
Publication year - 2014
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12146
Subject(s) - antithrombin , venous thromboembolism , antithrombin iii deficiency , medicine , gene , protein s , protein c deficiency , protein c , gastroenterology , bioinformatics , genetics , biology , venous thrombosis , thrombosis , heparin
Summary 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 C hinese 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 C hinese VTE patients. Functional assay combined with genetic analysis is useful in the diagnosis of inherited defects in VTE patients.