• Evaluation of common polymorphisms in Thalassemia patients
  • Majid MesgarTehranni,1,* Nahid Jannati Namin,2 Reza Mirlohi,3 Mohammad Mahdi Eslami,4
    1. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences
    2. Tehran University of Medical Sciences
    3. Member of the Bioinformatics Research Group, Nasim Research Institute
    4. Member of the Bioinformatics Research Group, Nasim Research Institute


  • Introduction: Thalassemia is a genetic blood disorder caused by mutations in hemoglobin genes, leading to reduced or defective production of hemoglobin chains. It is one of the most common genetic disorders in Mediterranean, Middle Eastern, and Southeast Asian populations. Identifying specific SNPs associated with thalassemia can aid in better understanding its genetic causes, enable earlier diagnosis, and predict the disease progression.
  • Methods: In this study, common SNPs associated with thalassemia were extracted from reputable scientific sources and databases such as NCBI, with selection criteria based on citation frequency and published articles. The identified SNPs were then entered into the Megagene software developed by the Iranian programming group, which is designed for genetic analysis. Additionally, gene expression profiles of Iranians, previously uploaded into Megagene, were used to identify SNPs that correlated with the gene expression profiles in the Iranian population. This methodology allowed for the identification of SNPs that might be more prevalent or relevant in the Iranian population.
  • Results: This study identified three major SNPs associated with thalassemia in the Iranian population: RS1042522, RS2241766, and RS2735940. These SNPs showed significant correlations with gene expression profiles in Iranian individuals, suggesting that they could serve as potential genetic markers for predicting and diagnosing thalassemia in this population. Furthermore, these SNPs provide deeper insight into the molecular mechanisms underlying the disease.
  • Conclusion: The findings of this study demonstrate that advanced software tools like Megagene, combined with reliable genetic databases, can significantly aid in identifying key SNPs associated with genetic diseases like thalassemia. The results of this research can contribute to early diagnosis, prevention strategies, and the development of targeted therapeutic approaches for thalassemia. Additionally, the approach used here can serve as a model for similar studies in other genetic disorders.
  • Keywords: Thalassemia,SNP,gene expression profile,Megagene,NCBI,genetic diseases, genetic markers,Iranian popu