Abstract

Suha Salah Ahmed, Tarig A. M. Hamid* and Nadia M. Madani

ABSTRACT

Background: Iron deficiency anemia (IDA) is a global health problem and common medical condition seen in everyday clinical practice. Matriptase-2 (MT-2) which is encoded by transmembrane protease serine 6 (TMPRSS6) gene regulates hepcidin expression. Objective of this study was to detect the association of TMPRSS6 (rs4820268) genetic polymorphisms with iron deficiency anemia risk in Sudan. Materials and Methods: This study was carried out on 129 patients with iron deficiency anemia and 129 age and sex matched individuals as control group. Patients were subdivided into (group 1) 65 patients with acquired iron deficiency anemia (IDA) and (group 2)64 patients with iron refractory iron deficiency anemia (IRIDA). TMPRSS6 gene single nucleotide polymorphisms(SNPS), (rs4820268) was evaluated using real time – polymerase chain reaction (RT-PCR) while serum iron profile was measured by enzyme linked immunosorbent assay (ELISA). Results: Among 129 patients, 68 were male (mean age: 12.2 ± 4.3 years) and 61 were female (mean age: 12.1 ± 5.6 years). In addition, 129 healthy age-matched and sex-matched individuals served as controls. Serum iron, total iron-binding capacity (TIBC), and ferritin levels among IDA patients were 10.00 ± 2.51, 323.75 ± 32.14, and 8.95 ± 45.09, respectively. For IRIDA patients, the values were 8.00 ± 4.21, 353.75 ± 14.36, and 5.854 ± 40.25. The control group exhibited significantly higher levels: 21.80 ± 3.38, 304.65 ± 50.19, and 13.73 ± 80.58. All three parameters showed a significant reduction in patient groups compared to controls (p-values: 0.015, 0.044, and 0.020). Moreover the frequency of SNP rs4820268 (heterozygous and homozygous) did not show a significant difference in IDA patients compared to controls (p = 0.087). However, IRIDA patients exhibited a highly significant increase in SNP rs4820268 frequency compared to both the control (p = 0.001) and IDA groups (p = 0.005). The study found no significant difference in polymorphism frequency between IDA patients and controls (p > 0.05). However, IRIDA patients demonstrated a highly significant increase in SNP rs4820268 group compared to controls (p = 0.001) and IDA patients (p = 0.001). Conclusion: The study highlights a significant reduction in serum iron, TIBC, and ferritin levels in both IDA and IRIDA patients compared to controls, with IRIDA patients showing the most pronounced deficiency. Additionally, IRIDA patients exhibited a highly significant increase in SNP rs4820268 frequency, distinguishing them genetically from both IDA patients and healthy controls.