Relationship Between TMPRSS6 Polymorphisms and Serum Iron Status in the Treatment of Iron Deficiency Anemia in Subclinical Hypothyroidism: A Pilot Study

English (OpenAlex)

Objective: This study aims to investigate the impact of three SNPs (rs4820268, rs2235321, rs855791) in the TMPRSS6 gene on iron metabolism in patients with subclinical hypothyroidism and iron deficiency anemia (IDA), as well as to evaluate the effects of iron-only and iron-thyroxine combination treatments on individuals with heterozygous and mutant genotypes. Material and Method: Ninety-five patients with subclinical hypothyroidism and IDA, alongside 30 healthy controls, participated in the study. Participants were grouped as follows: Control (N=30), Hypothyroidism (N=30), Hypothyroidism IDA (N=30), and Hypothyroidism IDA+Thyroxine (N=35). TMPRSS6 rs4820268 and rs855791 polymorphisms were analyzed using TaqMan SNP Genotyping Assays and qPCR, while rs2235321 was genotyped using Allele-Specific PCR (ASPCR). Complete blood count, iron levels, and total iron-binding capacity (TIBC) were measured with an automated analyzer, while ferritin levels were analyzed using immunoassay. Results: No significant differences were found in the genotype and allele distributions of TMPRSS6 polymorphisms (rs4820268, rs2235321, rs855791) between patients and controls. For rs4820268 and rs855791 heterozygous and mutant genotypes, ferritin levels were lower in the Hypothyroidism and Hypothyroidism IDA groups compared to controls, while TIBC was higher in the Hypothyroidism group. Ferritin was elevated and TIBC decreased in the Hypothyroidism IDA+Thyroxine group compared to Hypothyroidism and Hypothyroidism IDA groups. In terms of the rs2235321 polymorphism, iron and ferritin levels were higher in the Hypothyroidism+IDA+Thyroxine group than in the other hypothyroidism groups, but TIBC was lower. Conclusion: No significant variation was observed in the genotype and allele frequencies of TMPRSS6 polymorphisms between healthy individuals and those with hypothyroidism. Nevertheless, considering the relationship between hypothyroidism, iron metabolism, and treatment response, particularly in patients receiving combined therapy, treatment-related changes in TIBC and ferritin levels were observed.