Prothrombin G20210A Mutation is Rare but not Absent Among North Indian Patients with Thromboembolic Events

Priti Satyarthi,Debadrita Ray, Vasant Kumar, Chander Hans, Hari Kishan Senee,Jasmina Ahluwalia,Reena Das,Arihant Jain, Kartik Vinay Mahesh,Narender Kumar

Indian Journal of Hematology and Blood Transfusion(2024)

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摘要
Traditionally considered to be absent in India, prothrombin gene G20210A (NM_000506.5(F2): c.*97G > A) mutation (PGM) has recently been reported in few Indian patients. We aimed to assess the prevalence of PGM in patients with thromboembolic events from north India region. The thrombophilia workup comprising Protein C, Protein S, Antithrombin functional activity, lupus anticoagulant and anti-ACA and anti-ß2GP1 antibodies were performed in coagulation analyzer (ACLTOP-500, Instrumentation Laboratory, USA) and automated chemiluminescent assay analyzer (ACUSTAR, IL) respectively. PCR–RFLP was used to perform PGM and FVL mutation. Out of 509 patients, DVT and CVT/CSVT were identified in 208 and 250 patients respectively. A total of 42 (8.2
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关键词
Cerebral venous thrombosis,Deep vein thrombosis,Factor V Leiden,Prothrombin gene (G20210A) mutation,Stroke,Thrombophilia
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