Background: Haemoglobinopathies are genetic disorders that affect the structure or synthesis of haemoglobin, the oxygen-carrying protein in red blood cells. These disorders are prevalent in various regions of India and pose a significant public health challenge. Early detection and prevention are crucial to manage these conditions effectively. Materials and Methods: A prospective study was conducted to diagnose and quantify the prevalence of haemoglobinopathies in India. 760 blood samples were collected from different regions across the country. High-performance liquid chromatography (HPLC) was used as a screening tool for this study. HPLC is a technique in analytical chemistry used to separate, identify, and quantify each component in a mixture. It is sensitive and reliable for identifying and quantifying different haemoglobin fractions. Results: It was found that 32.5% of the samples had abnormal haemoglobin variants. The most common variant was beta thalassemia heterozygous, found in 19.47% of the samples. Other haemoglobinopathies, such as Hb E, Hb S, Hb D, and some rare variants were also detected. Conclusion: This study concluded that HPLC is an effective screening tool for identifying and quantifying different haemoglobin fractions. However, it was also noted that molecular tests are necessary for confirmation due to the complexity of these genetic disorders. The importance of early detection and prevention strategies for managing haemoglobinopathies was emphasized, given their significant prevalence in India.

Background: Haemoglobinopathies are genetic disorders that affect the structure or synthesis of haemoglobin, the oxygen-carrying protein in red blood cells. These disorders are prevalent in various regions of India and pose a significant public health challenge. Early detection and prevention are crucial to manage these conditions effectively. Materials and Methods: A prospective study was conducted to diagnose and quantify the prevalence of haemoglobinopathies in India. 760 blood samples were collected from different regions across the country. High-performance liquid chromatography (HPLC) was used as a screening tool for this study. HPLC is a technique in analytical chemistry used to separate, identify, and quantify each component in a mixture. It is sensitive and reliable for identifying and quantifying different haemoglobin fractions. Results: It was found that 32.5% of the samples had abnormal haemoglobin variants. The most common variant was beta thalassemia heterozygous, found in 19.47% of the samples. Other haemoglobinopathies, such as Hb E, Hb S, Hb D, and some rare variants were also detected. Conclusion: This study concluded that HPLC is an effective screening tool for identifying and quantifying different haemoglobin fractions. However, it was also noted that molecular tests are necessary for confirmation due to the complexity of these genetic disorders. The importance of early detection and prevention strategies for managing haemoglobinopathies was emphasized, given their significant prevalence in India.