ABSTRACT
             Background and Objectives: Hemoglobinopathies are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with thalassemia and other hemoglobinopathies in Masjed Soleiman County, Iran.
             Methods: This descriptive study was carried out on 456 individuals suspected of having hemoglobinopathies who were referred to health centers of the Masjed Soleiman Country in 2015-2017. Blood samples were collected in EDTA tubes. Complete blood count test was performed and red blood cell indices were determined. Level of Hb variants was measured using capillary electrophoresis. Reverse dot-blot, gap-polymerase chain reaction and Sanger sequencing were carried out to detect mutations. 
             Results: We found that 17.7% of the subjects were heterozygous for β-thalassemia. Frequency of mutations 36/37 (–T), IVS-II-1 (G>A) and IVS-I-110 (G>A) in the β-globin gene was 26.7%, 22% and 16.27%, respectively. In addition, 9.5% of the subjects contained Hb S, Hb D and Hb C, while 1.1% of the subjects showed co-inheritance of an Hb variant and β-thalassemia. In subjects with α-thalassemia, the -α3.7 (57.1%), -- ^MED–(17.4%), -α^4.2 (3.1%) and -α^20.5 (1.5%) deletions were found as the most prevalent mutations.
             Conclusion: In addition to the high prevalence of β-thalassemia and HBB gene mutations, we detected variants Hb S, Hb D, Hb C and co-inheritance of an Hb variants and β-thalassemia in individuals living in the Masjed Soleiman Country. We also identified four mutations in the α-globin gene. These results can be useful for genetic counseling in this population.

3148047270.              : Hemoglobinopathies, β-Thalassemia, α-Thalassemia, mutation, HB variant.

Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants. Recognized as a global health priority, these disorders necessitate accurate diagnostic approaches. High-performance liquid chromatography (HPLC) has emerged as a reliable method for their detection. This study aimed to analyze the spectrum of hemoglobinopathies using HPLC in a population from Western Maharashtra, India.
Methods: A cross-sectional study was conducted at Bharati Vidyapeeth (DTU) Medical College, Pune, over three years. A total of 1,455 specimens from individuals of both genders were analyzed using the VARIANT™ II β-Thalassemia Short Program based on ion-exchange chromatography. Hematological parameters were assessed for all subjects, and the prevalence of hemoglobinopathies, along with their subtypes, was documented.
Results: The mean age of the study population was 26.91 ± 7.06 years, with a female predominance. The overall incidence of hemoglobinopathies was 8.78%, with β-thalassemia minor being the most prevalent, followed by β-thalassemia major, Hb S trait, and Hb S disease. Rare variants included two cases of Hb D Punjab heterozygosity and one case of Hb E heterozygosity. The Mentzer index exhibited a positive correlation with Hb F and mean corpuscular hemoglobin (MCH) and a negative correlation with hemoglobin levels, Hb A, and red cell distribution width (RDW-C).
Conclusion: The study revealed an 8.78% prevalence of hemoglobinopathies in the region, with β-thalassemia trait (Heterozygous) being the most common. Notably, co-inheritance of Hb E with β-thalassemia exacerbated anemia severity. These findings underscore the importance of HPLC-based screening for early diagnosis and management of hemoglobinopathies in high-risk populations.