{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T10:48:11Z","timestamp":1774522091403,"version":"3.50.1"},"reference-count":35,"publisher":"Scientific Scholar","content-domain":{"domain":["ijmr.org.in"],"crossmark-restriction":true},"short-container-title":["Indian J Med Res"],"abstract":"<jats:sec>\n<jats:title>Background &amp; objectives<\/jats:title>\n<jats:p>Haemoglobinopathies, particularly thalassemia and sickle cell disease, are of major public health concern and pose a significant health burden in India particularly in the State of Odisha. The molecular complexity of \u03b2-thalassemia involves over 350 mutations, resulting in reduced beta-globin synthesis, excess iron, and oxidative stress.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Chorionic villi samples from \u03b2-thalassemia carrier mothers collected through trans-abdominal chorionic villi sampling (TA-CVS) were screened by real-time polymerase chain reaction for the most commonly found \u03b2-globin gene mutations: IVS 1-1 (G&gt;T), 619 bp deletion, IVS 1-5 (G&gt;C), CD15 (G&gt;A), FS41\/42 (-TTCT), HbS, FS8\/9 (+G), -90 (C&gt;T), CD16 (-C), HbE, CD15 (-T), CD30 (G&gt;C), and -28 (A&gt;G) using TOCE\u2122 (Tagging Oligonucleotide Cleavage and Extension) technology. Reduced glutathione (GSH), redox status (GSH\/GSSG ratio), and endothelin-1 (ET-1) were investigated in foetuses of defined \u03b2-globin gene mutations by colorimetry and ELISA, respectively, to explore the potential of GSH and ET-1 as oxidative stress biomarkers.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Of the total cases included in this study 40 per cent showed occurrence of HbS mutations with significant differences in GSH, GSSG, and redox ratio among mutation groups (<jats:italic>P<\/jats:italic>&lt;0.05). Correlation analysis revealed a non-significant association between GSH and ET-1 levels.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Interpretation &amp; conclusions<\/jats:title>\n<jats:p>This study provides key insights into oxidative stress in foetuses with defined \u03b2-globin gene mutations. GSH and ET-1 may be therapeutic targets to mitigate oxidative stress and healthy placentation in pregnancies with haemoglobinopathies.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/ijmr_1097_2024","type":"journal-article","created":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T06:19:20Z","timestamp":1748758760000},"page":"406-413","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Assessing oxidative stress in foetuses with \u03b2-globin gene mutations"],"prefix":"10.25259","volume":"161","author":[{"given":"Saffalya","family":"Nayak","sequence":"first","affiliation":[{"name":"Department of Biochemistry, SCB Medical College and Hospital, Cuttack, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratima Kumari","family":"Sahu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, SCB Medical College and Hospital, Cuttack, 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