Burden of Congenital Haemolytic Anaemias among the Rural Paediatric Population of Central India

Abstract

Introduction: Childhood anaemia may be caused due to many factors, including malnutrition, chronic infections, deficiency of iron and vitamins, parasitic infections. On haematological work up the most common finding is microcytic hypochromic anaemia. Inherited defects in Red Blood Cell (RBC) and haemoglobin structure and metabolism result in congenital haemolytic anaemia. About 4.2% of all paediatric microcytic anaemias are diagnosed with haemoglobinopathies. Thalessaemia and other haemoglobinopathies have a large representation in the Indian subcontinent. A study of the extent of these hereditary anaemias will help in formulating a targeted approach of spreading awareness and educating couples in target population, who are planning conception. Aim: To comprehend the incidence of congenital haemolytic anaemias in the paediatric population of central India, and to evaluate their clinico-haematological status. Materials and Methods: This cross-sectional observational study was conducted in the Paediatric Anaemia Clinic at Chirayu Medical College and Hospital (teaching, tertiary care hospital), Bhopal, Madhya Pradesh, India, from January to December 2021. All relevant details regarding clinical history, consanguinity, family history of the patients were recorded. Investigations done included-complete blood count, reticulocyte count, sickling test, Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) and High Performance Liquid Chromatography (HPLC). All the relevant data collected was entered into Microsoft excel and frequency, distribution, standard deviation were analysed and calculated. Results: Amongst the total 1080 cases of microcytic hypochromic anaemia in the Paediatric Anaemia Clinic, there were 55 cases of congenital haemolytic anaemias. Of these 55 cases of congenital haemolytic anaemias, there were 41 (74.54%) cases of thalassaemia (four major and 37 minor thalassaemia), 11 (20%) cases of sickle cell anaemia, 1 (1.81%) case of Hereditary Persistence of Foetal Haemoglobin (HPFH) and 2 (3.63%) cases of Haemoglobin J variant (HbJ). The haemoglobin values were the lowest in the β-thalassaemia major patients, followed by sickle cell disease. Foetal Hb (HbF) was highest in β-thalassaemia major at and the HPFH case had foetal haemoglobin of 35%. Conclusion: In the current study, 5.09% of the paediatric population presenting to the clinic were diagnosed with congenital haemolytic anaemias, with major representation of β-thalassaemia, followed by sickle cell trait. This lifelong burden of haemolytic anaemias on the children and their families may be reduced by active counseling and awareness programs.

Keywords

• awareness programmes
• haemoglobinopathies
• hereditary persistence of foetal haemoglobin
• thalassaemia