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Back ground <p>Anemia is a significant public health burden especially its prevalence among pregnant women, with iron deficiency serving as predominant cause. Genetic factors, such as polymorphisms in the Transmembrane Protease, Serine 6 (<i>TMPRSS6</i>) gene, play a crucial role in regulating iron homeostasis by modulating the expression of hepcidin. Blood group variations have a significant association with iron metabolism.</p> Methodology <p>This study investigates the association of <i>TMPRSS6</i> gene polymorphism rs1421312 (CC, TC, TT genotypes), blood groups, and key hematological markers with anemia susceptibility in pregnant Indian women. A case-control study was conducted with anemia (<i>N</i> = 74) and non-anemia (<i>N</i> = 69) participants. Genotyping and hematological assessments (Hemoglobin (Hb), Packed Cell Volume (PCV), serum ferritin, Total Iron Binding Capacity (TIBC), transferrin saturation) were performed. Chi-square and independent t- tests were conducted to assess the associations, whilst regression models determined genetic and hematological interactions.</p> Results <p>The TC genotype was the most prevalent (75.5%), followed by CC (12.6%) and TT (11.9%). Women without anemia predominantly carried the TC genotype (81.2%), whereas women with anemia showed increased frequency distribution of CC (23%) and TT (14.9%) genotypes (χ²=6.542, <i>p</i> = 0.038). The TT genotype was significantly associated with lower hemoglobin and PCV values, with abnormal transferrin saturation (<i>p</i> &lt; 0.05), suggesting it as a genetic risk marker. Also, study groups with blood group O + showed a higher frequency of iron deficiency markers, while non-O blood groups had relatively better iron status. A significant association was observed between TT genotype of rs1421312 polymorphism and iron deficiency anemia, especially among Rh-negative individuals. Interaction between <i>TMPRSS6</i> polymorphisms and blood groups revealed a possible genetic predisposition to anemia. No significant association was observed between rs1421312 and serum ferritin, serum iron or TIBC, suggesting the polymorphism influences functional iron deficiency (via Hb, PCV, and transferrin saturation) rather than iron storage.</p> Conclusion <p>This study establishes a significant association between rs1421312 polymorphism of <i>TMPRSS6</i>, blood groups, and anemia susceptibility in pregnant Indian women. Genetic screening may support early anemia detection and targeted interventions. Further large-scale studies are warranted to validate these findings and guide public health strategies.</p>

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Association of TMPRSS6 rs1421312 polymorphism, blood groups, and iron status in pregnant Indian women with anemia

  • 期刊论文

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  • 发表日期：

    2025年12月17日

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  • Dinesh Venkatesan,
  • R. Sajeetha Kumari,
  • Satish Ramalingam,
  • Leela Kagithakara Vajravelu,
  • Jayaprakash Thulukkanam,
  • Jancy Sekar,
  • Deeksha Punniyamoorthy,
  • Tridip Mitra

摘要

Back ground

Anemia is a significant public health burden especially its prevalence among pregnant women, with iron deficiency serving as predominant cause. Genetic factors, such as polymorphisms in the Transmembrane Protease, Serine 6 (TMPRSS6) gene, play a crucial role in regulating iron homeostasis by modulating the expression of hepcidin. Blood group variations have a significant association with iron metabolism.

Methodology

This study investigates the association of TMPRSS6 gene polymorphism rs1421312 (CC, TC, TT genotypes), blood groups, and key hematological markers with anemia susceptibility in pregnant Indian women. A case-control study was conducted with anemia (N = 74) and non-anemia (N = 69) participants. Genotyping and hematological assessments (Hemoglobin (Hb), Packed Cell Volume (PCV), serum ferritin, Total Iron Binding Capacity (TIBC), transferrin saturation) were performed. Chi-square and independent t- tests were conducted to assess the associations, whilst regression models determined genetic and hematological interactions.

Results

The TC genotype was the most prevalent (75.5%), followed by CC (12.6%) and TT (11.9%). Women without anemia predominantly carried the TC genotype (81.2%), whereas women with anemia showed increased frequency distribution of CC (23%) and TT (14.9%) genotypes (χ²=6.542, p = 0.038). The TT genotype was significantly associated with lower hemoglobin and PCV values, with abnormal transferrin saturation (p < 0.05), suggesting it as a genetic risk marker. Also, study groups with blood group O + showed a higher frequency of iron deficiency markers, while non-O blood groups had relatively better iron status. A significant association was observed between TT genotype of rs1421312 polymorphism and iron deficiency anemia, especially among Rh-negative individuals. Interaction between TMPRSS6 polymorphisms and blood groups revealed a possible genetic predisposition to anemia. No significant association was observed between rs1421312 and serum ferritin, serum iron or TIBC, suggesting the polymorphism influences functional iron deficiency (via Hb, PCV, and transferrin saturation) rather than iron storage.

Conclusion

This study establishes a significant association between rs1421312 polymorphism of TMPRSS6, blood groups, and anemia susceptibility in pregnant Indian women. Genetic screening may support early anemia detection and targeted interventions. Further large-scale studies are warranted to validate these findings and guide public health strategies.