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ORIGINAL ARTICLE
Year : 2022  |  Volume : 35  |  Issue : 3  |  Page : 1314-1317

Effect of TMPRSS6 rs855791 (T>C) polymorphism on pathophysiology of iron-deficiency anemia


1 Department of Pediatrics, Shyam Shah Medical College, Rewa, Madhya Pradesh, India
2 Deptartment of Zoology, Govt. Girl PG College, Rewa, Madhya Pradesh, India
3 Department of Anesthesiology, Shyam Shah Medical College, Rewa, Madhya Pradesh, India
4 Deptartment of Biotechnology, Guru Ghasidas University, Bilaspur, Chhattisgarh, India
5 Department of Multidisciplinary Research Unit, Shyam Shah Medical College, Rewa, Madhya Pradesh, India

Correspondence Address:
Sanjay Kumar Pandey
Multidisciplinary Research Unit, Shyam Shah Medical College, Rewa, Madhya Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mmj.mmj_316_21

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Background The TMPRSS6 (Transmembrane Serine Protease 6) gene is found on chromosome 22. TMPRSS6 is a protein-coding gene. Iron absorption and metabolism in the body is controlled by matripase-2 enzyme, which is encoded by TMPRSS6 gene. Objectives TMPRSS6 rs855791 polymorphism was investigated for its effect on serum iron levels of patients with iron-deficiency anemia. Patients and methods A tertiary referral hospital served as the study setting. The complete blood count was analyzed using an automated five-part hemtoanalyzer. Enzyme-linked immunosorbent assay (ELISA) was used to analyze ferritin in serum. Restriction fragment length polymorphism PCR-RFLP was used to genotype TMPRSS6rs855791 C>T iron assimilator gene using StuI restriction enzyme. Results There were 21 heterozygous patients and four homozygous patients. TMPRSS6 (rs855791C>T) mutants were found to present 14 heterozygotes, whereas no homozygotes were present in controls. Serum ferritin and hemoglobin levels were also elevated in mutants with this mutation. C-reactive protein (CRP) levels and Erythrocyte sedimentation rate (ESR) levels were decreased in mutant genotypes. These parameters were statistically significant. The total iron-binding capacity level and % transferrin saturation levels were significantly higher in TMPRSS6 (rs855791C>T) genotypes, and the P values were statistically significant. TMPRSS6 (rs855791C>T) mutation is associated with less severe iron-deficiency anemia symptoms. Conclusion As the results of our study indicate, mutations protect against iron-deficiency anemia and confer selection advantage to heterozygous carriers.


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