Prevalence of Haemoglobin Variants and Haemoglobinopathies in a Single Paediatric Centre in Southern India: A Retrospective Cross-sectional Study

Abstract

Introduction: Haemoglobinopathies are qualitative disorders of Haemoglobin (Hb) resulting from structural defects in the amino acid sequence of one of the globin chains, whereas, thalassaemia results from quantitative defects in the synthesis of one or more of the globin chain subunits of the Hb tetramer. Cation ExchangeHigh Performance Liquid Chromatography (CE-HPLC) is one of the methods for initial screening of Hb variants like HbS, HbD, HbE etc and for quantification of HbF, HbA and HbA2 levels. Aim: To find out the prevalence of haemoglobinopathies in patients of a Government paediatric tertiary care hospital in south India. Materials and Methods: In this retrospective, cross-sectional study, all laboratory requests, in the period from August 2019 to July 2021, for Hb variant analysis by HPLC were collected, irrespective of provisional diagnosis. The Hb variant analysis was carried out by CE-HPLC on the Bio-Rad D-10 analyser. This study was conducted in a Government Paediatric tertiary care hospital in Southern India for patients who had any clinical or familial suspicion of haemoglobinopathies. The Statistical analysis was performed using Microsoft Excel 2010. Results: Total data of 704 laboratory requests for Hb Variant analysis were obtained. Out of 704 laboratory request, 585 were from children younger than 12 years of age and 119 were parental screening. There were 164 abnormal chromatograms. Out of 164 patients, 91 were female patients and 73 were male patients. Out of 164 abnormal chromatograms, 97 (59.15%) were betathalassaemia trait, 18 (10.98%) were beta-thalassaemia major, 13 (7.93%) were sickle cell trait, 2 (1.22%) were sickle cell disease, 21 (12.80%) were HbE trait, 2 (1.22%) were homozygous HbE, 2 (1.22%) were HbD trait, 3 (1.83%) were Hereditary Persistence of Foetal Hb (HPFH)/delta beta-thalassaemia, 2 (1.22%) were HbJ trait, 1 (0.61%) was HbE beta-thalassaemia, 1 (0.61%) was sicklebeta-thalassaemia and 2 (1.22%) were alpha thalassaemia. Conclusion: From this study, beta-thalassaemia trait and betathalassaemia major were found to be the first and second most prevalent haemoglobinopathies in children below 12 years of age. This data suggests the importance of premarital and antenatal screening procedures that can help in reducing the possibility of such haemoglobinopathies in the future generation, suffering and burden of disease to the family and society.

Keywords

• antenatal screening
• high performance liquid chromatography
• sickle cell anaemia
• thalassaemia