Investigation of MicroRNA 196a2 polymorphism with Thalassemia Disease among Middle and South Iraqi Population

Background Beta-thalassemia is widely recognized as a prevalent genetic hematologic disease. The condition is characterized by a decrease or absence in the synthesis of a specific globin chain, leading to the development of varying degrees of hemolytic anemia and its associated consequences. MicroRNAs (miRNAs) play a significant role in the reactivation of globin expression in individuals with thalassemia. However, the transcriptional patterns of miRNAs in thalassemia have not yet been determined.
The aim of the study: This study examines the polymorphism of miRNA 196a2 in people diagnosed with thalassemia.
Method: The present investigation comprised a sample size of 100 individuals diagnosed with thalassemia in conjunction with an equivalent number of control samples. Samples were collected from patients at the thalassemia center at Babylon Hospital from May 2021 to August 2021. These samples were obtained to assess materiality and pediatrics in Babylon provinces and Iraq in the year 2021.
Results: The findings of the current study demonstrate a significant association between persons possessing the dominant model genotype (TT., TT+TC) and an increased susceptibility to thalassemia disease, compared to patients with the recessive model genotype (CC, TC+TT) (P value = 0.032, OR = 1.85, CI 95% (1.05-3.27).
Conclusions: To our knowledge, this investigation represents the initial examination that establishes a correlation between miRNAs, the rs11614913 single nucleotide polymorphism (SNP), and thalassemia. This study posits that there may be an association between the miRNA196a2 rs11614913 T>C variant T>C and susceptibility to beta-thalassemia illness in the middle and southern Iraqi population. Additional research involving many centers is required to validate our findings. The results suggest that variations in the target sites of the miRNA rs11614913 SNP of miRNA rs11614913 inside genes associated with thalassemia may play a role in modifying the severity of thalassemia phenotypes.