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

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Abstract

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%) cases showed inherited thrombophilia and 11 (2.1%) acquired thrombophilia. Among the inherited defects, the most common was FVL mutation 31 (6%) The PGM was seen in only 2/509 (0.3%) patients. The prevalence of PGM in North Indian patients with DVT, stroke and CVT is 0.41% (2/509). Although PGM is rare in this population, its presence emphasizes its association with these conditions. However, the role of PGM testing remains debatable due to its scarcity among North Indians.

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Authors and Affiliations

  1. Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Priti Satyarthi, Debadrita Ray, Vasant Kumar, Chander Hans, Hari Kishan Senee, Jasmina Ahluwalia, Reena Das & Narender Kumar

  2. Department of Clinical Hematology and Medical Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Arihant Jain

  3. Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Kartik Vinay Mahesh

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  1. Priti Satyarthi
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  2. Debadrita Ray
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  3. Vasant Kumar
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  4. Chander Hans
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  5. Hari Kishan Senee
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  6. Jasmina Ahluwalia
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  7. Reena Das
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  8. Arihant Jain
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  9. Kartik Vinay Mahesh
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  10. Narender Kumar
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Contributions

NK and PS contributed to the study conception and design. Material preparation, data collection and analysis were performed by PS, DR, VK, CH, HKS, JA, RD, AJ, KVM and NK. The first draft of the manuscript was written by DR and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Narender Kumar.

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Approved by the Institutional Ethics Committee. All procedures performed were in accordance with the ethical standards of the institutional ethics committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Consent for publication was obtained for every individual person’s data included in the study.

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Informed consent was obtained from all individual participants included in the study.

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Satyarthi, P., Ray, D., Kumar, V. et al. Prothrombin G20210A Mutation is Rare but not Absent Among North Indian Patients with Thromboembolic Events. Indian J Hematol Blood Transfus (2024). https://doi.org/10.1007/s12288-024-01741-x

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