chromatographic insights into hemoglobinopathies: spectrum analysis by high-performance liquid chromatography in a western indian tertiary care hospital

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.