EXPLORING TYPE II TRANSMEMBRANE SERINE PROTEASES IN IRON DEFICIENCY ANEMIA THROUGH GENE EXPRESSION ANALYSIS

Abstract

Background: Inadequate iron levels necessary for effective haemoglobin synthesis lead to the common dietary problem known as iron deficiency anaemia (ΙDA). The challenging regulation of iron metabolism depends on hepcidin and the matriptase-2 enzyme, which is linked to the TMPRSS6 gene. By limiting the formation of hepcidin through the BMP-SMAD signalling pathway, TMPRSS6 plays a critical role in maximising iron absorption. Disruptions in this pathway result in IDA, an uncommon hereditary disorder marked by inadequate iron absorption. It is necessary to comprehend these pathways in order to treat and prevent iron deficiency anaemia. It is a rare genetic disorder characterised by insufficient absorption of iron. Objective: Iron deficiency anaemia is associat℮d with h℮pcidin and the ℮xpr℮ssion of the TMPRSS6 gene. Methodology: 40 people between the ages of 16 and 60 participated in a case control study (20 cases and 20 controls). TMPRSS6 with particular primers used for quantitative PCR (qPCR) investigation of gene expression between patients and controls throughout a 12-month period from November 2024 to November 2025. ANOVA, Pearson correlation, multiple linear regression, and the Mann Whitney U test were among the statistical methods used to examine the relationship between gene expression levels in IDA patients and controls. Results: According to the study, patients with iron deficiency anaemia (IDA) had lower TMPRSS6 gene expression than healthy controls, as evidenced by a larger ΔCT value. Though  there was no statistically significant difference (p = 0.099), fold change analysis confirmed that this downregulation occurred. Conclusion: The work highlights the critical role that the TMPRSS6–hepcidin pathway plays in controlling iron homeostasis. Gaining a better understanding of these molecular alterations may aid in the identification of future therapeutic targets and better diagnostic markers for the treatment of iron-related illnesses.