• common polymorphisms in thalassemia disease
  • Dr. Majid MesgarTehrani,1,* Mahya Tajik,2 Dr. Mohammad Mahdi Eslami,3 Dr. Reza Mirlohi,4
    1. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    3. Member of the Bioinformatics Research Group, Nasim Research Institute, Tehran, Iran
    4. Member of the Bioinformatics Research Group, Nasim Research Institute, Tehran, Iran


  • Introduction: Here we are going to investigate the pharmacogenetics of thalassemia major by using bioinformatics methods. Bioinformatics is the use of computing to further understand biology. The goal of this method could be to generate testable hypotheses that can be validated in the laboratory, which in turn would lead to learning new things about the biological world.
  • Methods: The method used in this study was the data analysis method from the NCBI database. The data in this study are all about common polymorphisms in thalassemia disease that are currently being explored. For a more detailed examination and recording of the aforementioned data, Mega gene software was used.
  • Results: According to the studies that were conducted, the most common gene involved in thalassemia is HBA2 and this RS, RS41321052 has the highest citation.
  • Conclusion: In this article, we tried to better understand the vulnerability of people, including Iranians to thalassemia. Because Iran is located on the thalassemia belt and, like many other countries in the region, has a large number of thalassemia patients. Thalassemias are more common in the northern (Caspian Sea) and southern (Persian Gulf and Sea of Oman) regions of the country, where the rate of beta thalassemia carriers is about 10% and alpha thalassemia is more than 35%.
  • Keywords: Thalassemia - NCBI - polymorphisms