Study of hemoglobinopathies using HPLC in paediatric patients at a tertiary care hospital

Background: A hemoglobinopathy is an inherited blood disorder which constitue a major bulk of genetic disease in India. Early detection and characterization of the hemoglobinopathies is essential so that appropriate counselling can be provided to couples and families who may be at risk of severe haematological consequences. Cation exchange HPLC is one of the preferred method to detect most of the clinically significant variants of hemoglobinopathies. Materials and Methods: Total 190 children were investigated for hemoglobinopathies using HPLC technique and pattern of different haematological parameters were studied at SMIMER Hospital, Surat over the period from December 2022 to October 2024 in the Department of Pathology. Results: Out of 190 children, 65 children (34%) were detected with different hemoglobinopathies with majority of children having sickle cell disease followed by sickle cell trait and β thalassemia trait. The most common age group was > 12 years, 80% having hemoglobin levels < 10 g/dl and 78% having MCV values < 82 fl. Conclusion: Nutritional deficiency is a major cause of anemia but abnormal haemoglobin as a cause of anemia should also be considered, since morbidity and mortality is higher in homozygous conditions of hemoglobinopathies, thus detailed investigation required to know cause of anemia. Premarital and antenatal screening will be helpful in detecting abnormal hemoglobin disorders and identifying carrier states as well as double heterozygous states.