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Subject Area

Pediatrics

Article Type

Original Study

Abstract

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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