HAEMOGLOBINOPATHIES: PREVALENCE IN A TERTIARY CARE POPULATION, ROLE OF HPLC IN DIAGNOSIS, AND THE IMPORTANCE OF EARLY DETECTION AND RECENT ADVANCES

Abstract

Background: Haemoglobinopathies are among the most common inherited blood disorders, ranging from asymptomatic carriers to severe transfusion-dependent anaemia. High-Performance Liquid Chromatography (HPLC) is widely used for screening and quantifying hemoglobin variants. However, its utility may be limited in cases with borderline HbA₂ levels or co-eluting peaks. Objectives: To determine the prevalence of haemoglobinopathies in a tertiary care population, evaluate the diagnostic performance and limitations of HPLC, and emphasize the importance of early detection and recent diagnostic advances. Materials and Methods: A cross-sectional study was conducted on 200 patients attending a tertiary care hospital. Hemoglobin variant analysis was performed using the Bio-Rad D-10 HPLC system. Chromatograms were interpreted per manufacturer guidelines and correlated with clinical and hematological findings. Results: Among the 200 samples, 41% showed normal hemoglobin patterns. Abnormal variants included β thalassaemia trait (38%), β-thalassaemia major (1%), sickle cell trait (4%), sickle cell anaemia (5%), and HbE trait (1%). Additionally, 35% had borderline HbA₂ levels (3.2–4.0%), 28% had HbA₂ <2.1%, and 6% exhibited co-eluting peaks. Conclusion: β-thalassaemia trait was the most common hemoglobinopathy observed. A significant proportion of cases with borderline or low HbA₂ values highlights the limitations of relying solely on HPLC. Incorporating molecular diagnostic methods and AI-assisted interpretation tools may enhance diagnostic accuracy, particularly in ambiguous or co-eluting cases.