Iranian journal of Pediatric Hematology and Oncology

en Beta-Thalassemia Haplotypes in Southwest of Iran عمومى General پژوهشي Research <div style="border: 1.5pt double windowtext; padding: 1pt 4pt; text-align: justify;">Background: Thalassemia is a widespread disease affecting people across various ethnicities and regions. In comparison to previous studies conducted in different regions of Iran, such as those in Lorestan and Sistan-Baluchestan, this study highlights unique mutation patterns prevalent in the southwestern population, emphasizing the genetic heterogeneity in this region. The identification of common mutations of beta-thalassemia in various ethnic groups within the nation is regarded as a practical solution for thalassemia prevention and prenatal diagnosis. Materials and Methods: In this retrospective observational study, the medical records of 545 patients with various types of beta-thalassemia (silent, minor, intermediate, and major), referred to the center at Baqaei 2 hospital over a 14-year period (2008–2022), were examined. The age range of patients spanned from a 2-month-old fetus to a 34-year-old individual. Their mutations and thalassemia types were determined and confirmed using molecular methods, including PCR-ARMS (polymerase chain reaction-amplification refractory mutation system) and sequencing. The results were analyzed using SPSS software. Results: The study examined 545 patients and identified 81 types of mutations. The most frequent mutations observed were CD36-37(-T)/N, IVSII-1/N, and IVS1-110(G>A). The study also noted population heterogeneity, reflected in the wide range of mutations found in the region. Among the patients, 6 had the silent form of beta-thalassemia, 488 had the minor form (464 patients and 24 fetuses), 9 had the intermediate form (8 patients and 1 fetus), and 42 had the major form (26 fetuses and 16 adults). Conclusion: The identification of prevalent beta-thalassemia mutations facilitates disease control and prevention programs and is crucial for the identification of various beta-thalassemia gene mutations. This should be re-evaluated periodically. Observing a wide range of beta-thalassemia genotypes in the southwestern region of Iran suggests gene flow; thus, identifying these genotypes is instrumental in preventing and controlling the disease.</div> βeta thalassemia, Mutation, Iran 266 275 http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-949-3&slc_lang=en&sid=1 Bizhan Keikhaei Dehdezy keikhaeib@yahoo.com 0000-0002-3087-7650 No Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Ladan Mafakher ladan.mafakher@gmail.com 0000-0003-3767-9769 No Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Arta Farhadi Kia shadowarta@gmail.com 0000-0001-5013-8196 No Faculty of medical science, Izmir, Turkey Faculty of medical science, Izmir, Turkey Roya Salehi Kahyesh royaarta@yahoo.com 0000-0002-7770-6162 Yes Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Emir Yiğit Perk ymirperk@gmail.com 0000-0003-2405-206X No Faculty of medical science, Izmir, Turkey Faculty of medical science, Izmir, Turkey Saeed Bitaraf drsbitaraf@yahoo.com 0000-0003-4688-9856 No Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Faculty member of Thalassemia &Hemoglobinopathy Research center, research institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Mahmood Maniati maniatim@yahoo.com 0000-0002-6832-1615 No Faculty member of Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Faculty member of Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran