Satyarthi Priti, Ray Debadrita, Kumar Vasant, Hans Chander, Senee Hari Kishan, Ahluwalia Jasmina, Das Reena, Jain Arihant, Mahesh Kartik Vinay, Kumar Narender
Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Clinical Hematology and Medical Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Indian J Hematol Blood Transfus. 2024 Jul;40(3):522-526. doi: 10.1007/s12288-024-01741-x. Epub 2024 Mar 25.
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.
The online version contains supplementary material available at 10.1007/s12288-024-01741-x.
凝血酶原基因G20210A（NM_000506.5(F2): c.*97G > A）突变（PGM）传统上被认为在印度不存在，但最近在少数印度患者中被报道。我们旨在评估印度北部地区血栓栓塞事件患者中PGM的患病率。分别在凝血分析仪（ACLTOP - 500，美国仪器实验室）和自动化学发光分析分析仪（ACUSTAR，IL）上进行了包括蛋白C、蛋白S、抗凝血酶功能活性、狼疮抗凝物以及抗心磷脂抗体（ACA）和抗β2糖蛋白1抗体（anti - ß2GP1）的易栓症检查。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）检测PGM和因子V莱顿（FVL）突变。在509例患者中，分别在208例和250例患者中诊断出深静脉血栓形成（DVT）和脑静脉血栓形成/硬脑膜窦血栓形成（CVT/CSVT）。共有42例（8.2%）病例表现为遗传性易栓症，11例（2.1%）为获得性易栓症。在遗传性缺陷中，最常见的是FVL突变31例（6%）。仅在2/509（0.3%）的患者中发现了PGM。在印度北部患有DVT、中风和CVT的患者中，PGM的患病率为0.41%（2/509）。尽管PGM在该人群中罕见，但其存在强调了它与这些病症的关联。然而，由于其在印度北部人群中稀缺，PGM检测的作用仍存在争议。
在线版本包含可在10.1007/s12288 - 024 - 01741 - x获取的补充材料。
