Spectrum of Hemoglobinopathies by Electrophoresis at Tertiary Care Centre

Dr. Abhishek Vitthal Gawande, Dr. Vijay Madhukar Mulay, Dr. Rajan S. Bindu

Abstract: Background: Haemoglobinopathies are among the most common inherited genetic disorders worldwide, particularly in India where diverse ethnic populations contribute to variable prevalence. Accurate and early diagnosis is crucial for clinical management and prevention. Objective: To determine the spectrum of haemoglobinopathies using hemoglobin electrophoresis at a tertiary care centre, and to evaluate hematological parameters across different groups. Methods: This prospective observational study was conducted on patients suspected of having haemoglobinopathies. Detailed clinical evaluation, complete blood count (CBC), peripheral smear, and alkaline hemoglobin electrophoresis were performed. Hematological data was analysed to identify specific patterns. Results: Out of 200 cases, the majority were diagnosed with sickle cell trait (42%), followed by sickle cell disease (28%), beta thalassemia trait (10%), beta thalassemia major (10%), sickle-beta thalassemia (4%), and hemoglobin E trait (4%). Clinical manifestations varied by genotype. Hematological parameters showed microcytic hypochromic anemia predominantly in thalassemia syndromes. Conclusion: Hemoglobin electrophoresis remains a reliable, economical, and accessible tool for diagnosing haemoglobinopathies. Early diagnosis is key for appropriate genetic counselling and clinical intervention.

Keywords: Haemoglobinopathies, Electrophoresis, Thalassemia, Sickle Cell Disease, Hemoglobin E, India