Prevalence of Hemoglobinopathies and Hemoglobin Variants among Anaemic Children: A Cation Exchange-High Performance Liquid Chromatography-Based Study at a Tertiary Care Teaching Hospital

Background: Hemoglobinopathies are a major cause of anemia in India, particularly in Maharashtra, where diverse ethnic groups are affected. Early diagnosis is essential to reduce morbidity and mortality. High-performance liquid chromatography (HPLC) provides a reliable and superior alternative to conventional screening methods. Methods: A hospital-based cross-sectional study was conducted over 18 months at a tertiary care medical college, including 516 anemic children (Hb <12 g/dL, MCV <75 fL) aged 6 months to 12 years. Clinical history, demographic data, and laboratory investigations (CBC, reticulocyte count, peripheral smear, sickling test, solubility test, NESTROFT, HPLC) were analyzed. Statistical analysis included t-tests and chi-square tests, with significance set at p < 0.05. Results: Among 516 children, 278 (54%) were male, and 44% were aged 0.5–5 years. Consanguinity was observed in 21%, and prior transfusions in 20%. Hemoglobinopathies were identified in 70 children (13.57%), with sickle cell trait (5.62%), sickle cell disease (3.29%), β-thalassemia trait (2.52%), and β-thalassemia major (1.36%) as common variants. Prevalence was highest in the Manelwarli caste (28.57%). Hemoglobin levels were significantly lower in children with hemoglobinopathies (8.46 vs. 9.82 g/dL, p=0.0102), while MCV (72.63 vs. 63.91 fL, p<0.0001) and RDW (15.76% vs. 14.77%, p=0.0226) were higher. Transfusions were required in 71.4% of β-thalassemia major and 41.2% of sickle cell disease cases. Screening tests showed 52–56% concordance with HPLC. Conclusion: Hemoglobinopathies significantly contribute to anemia, particularly among younger children and consanguineous families. HPLC provides superior diagnostic accuracy compared to traditional screening methods, enabling early detection of severe cases requiring transfusions. Routine screening and genetic counseling are crucial to reducing the disease burden. Keywords Thalassemia, Sickle cell disease, Anemia, Pediatric, Consanguinity, Variant hemoglobin, Screening tests