Clinical Profile and Cardiac Complications of Haemoglobinopathies in Children at Tertiary Care Centre in Hyderabad, India: A Cross-sectional Study

Abstract

Introduction : Haemoglobinopathies include a group of inherited, chronic haemolytic anaemias which are transfusion dependent. Haemolytic Anaemia is a public health problem and has a high prevalence in Asian countries. Cardiac morbidity and mortality are burdens of these disorders as a result of chronic anaemia and iron overload despite iron chelation therapy. For this reason, it is recommended that regular cardiac evaluation should be done for all patients with haemoglobinopathies. Aim: To study the clinical and laboratory profile of haemoglobinopathies and, the cardiac complications in transfusion-dependent patients by conventional echocardiography. Materials and Methods: This hospital-based, cross-sectional observational study was conducted in Department of Paediatrics at Niloufer Hospital, Hyderabad, Telangana, India, from 2020 March to 2022 February. Diagnosis confirmed clinically or by Laboratory including 2D Echocardiography (ECHO). Variable measures are demographic data of the child, clinical features, laboratory changes, and 2D ECHO changes. Continued variables (quantitative) were analysed calculating mean and standard deviation and performing T-test or Mann-Whitney’s test. Results:The mean age of children with haemoglobinopathy was 4.8±2.86 years. Patients with serum ferritin >1000 mg/dL had more than 10 transfusions per year in 33 cases. The 2D ECHO was abnormal in 65% of patients, among these 61% of patients showed increased Left Ventricular (LV) mass/m2 in ECHO, and 39% had normal LV mass/m2. The mean ejection fraction in the patients was 64.82%. Pulmonary hypertension was seen in 25% of patients and 42 patients had mild tricuspid regurgitation. Conclusion: There is a possibility of reducing the disease burden by health education and avoiding parental consanguinity as almost half of the patients have parental consanguinity. Serial echocardiography is recommended to screen for early discoveries of cardiac abnormalities in asymptomatic children and timely initiation of appropriate therapy