Journal of Clinical and Diagnostic Research. 2023 May, Vol-17(5): SC01-SC05 1 1 DOI: 10.7860/JCDR/2023/62334.17781 Original Article Paediatrics Section Correlation Between Serum Ferritin Levels and Echocardiographic Changes in Children with Beta-thalassaemia Major- A Cross-sectional Analytical Study INTRODUCTION Thalassaemia refers to a group of inherited genetic disorders of globin chain production in which there is an imbalance between the α-globin and beta-globin chain production [1]. It is inherited in an autosomal recessive manner. Each year 8000 children with thalassaemia are born in India, accounting for 10% of the annual worldwide incidence [2]. There are several complications of thalassaemia due to iron overloading among them cardiac complications are the most serious ones causing morbidity and mortality [3]. Iron overload in these children develops due to transfusional iron and increased iron absorption from the gut secondary to excessive erythropoiesis. One unit of Packed Red Blood Cell (PRBC) transfusion causes 250 mg of iron deposition in body. This excess iron cannot be eliminated from our body physiologically. Therefore, this iron is initially deposited in liver followed by heart and other endocrine organs [4]. Heart failure secondary to iron overload is the most common cause of death in patients with beta thalassaemia major. Heart injuries include atria and ventricular dilatation, arrhythmia, valvular dysfunction, pulmonary hypertension, cardiomyopathy, etc., Adaptation of the heart to the longstanding anaemia can be seen as tachycardia at rest, low blood pressure, increased end diastolic volume and increased cardiac output. Diastolic dysfunction generally appears before systolic dysfunction in the natural history of ventricular dysfunction [5]. Haemosiderosis induced morbidity can be prevented by adequate chelation therapy. The most accurate method to measure iron level is liver biopsy but it is invasive. The other way to monitor iron overload is T2 weighted MRI in heart and liver but this method is not easily available everywhere, while echocardiography is widely available [6,7]. Plasma ferritin can be used as an indirect marker of the body iron stores. Ferritin is increased in conditions of iron overload like thalassaemia, haemochromatosis, etc. Ferritin is falsely elevated in inflammation and infection as it is also an acute phase reactant. The normal range is 30-300 ng/mL. Serum ferritin increases after 10-12 transfusions in unchelated patients [8]. According to several studies, it is found that serum ferritin levels above 2500 ng/mL are associated with an increased risk of cardiac dysfunction [9-11]. Very few studies on cardiovascular complications of beta-thalassaemia were done in the age group of below 12 years [12,13]. In this study, all the children were below 12 years so that we can detect cardiac complications as early as possible. We could also get an idea about functional parameters of echo at this very early stage. Thus, the aim of present study was to evaluate the relationship between serum ferritin levels and echocardiographic findings in the children of beta thalassaemia major with the hypothesis that iron overload will affect the magnitude and nature of cardiac involvement concerning various serum ferritin levels. MATERIALS AND METHODS This cross-sectional analytical study was performed from March 2020 to July 2021, among 85 beta-thalassaemia major children between the age group of 1-12 years, who visited Thalassaemia Clinic of RG Kar Medical College and Hospital, Kolkata, West Bengal, India. The study was approved by Institutional Ethical Keywords: Diastolic, Ejection, Fractional, Ventricular ESHITA DAS 1 , NEHA KARAR 2 , DIPANJAN HALDER 3 , PRATIVA BISWAS 4 , ARGHYA ROY NASKAR 5 ABSTRACT Introduction: Heart failure secondary to iron overload is the leading cause of mortality in patients with beta-thalassaemia major. Prevention of myocardial siderosis is a key step to reducing the rate of mortality in thalassaemia children. Aim: To study the correlation between serum ferritin levels and echocardiography parameters in children with beta-thalassaemia major. Materials and Methods: This cross-sectional analytical study was conducted in the Department of Paediatrics, RG Kar Medical College and Hospital, Kolkata, India from March, 2020 to July, 2021. A total of 85 beta-thalassaemia major children aged between 2-12 years without having any active infections or congenital heart diseases, were included in this study. Blood samples were obtained from these children for serum ferritin level assessment and echocardiography was performed to evaluate their cardiac function. Data were statistically analysed using the Chi-square test. Results: The mean age of patients was 7.24±2.76 years and the age range was 1-12 years. Mean serum ferritin levels in the study was 1938.67±992.57 and more than three-fourth of our population had serum ferritin levels more than 1000 ng/ mL. A 30% of present study population had abnormal echo findings. A significant correlation was noted between serum ferritin levels and echo parameters like Fractional Shortening (FS), Deceleration Time (DT), Early and Late Ratio (E/A ), Left Ventricular Mass (LV Mass). But negative correlation was found between serum ferritin levels and Ejection Fraction (EF). Conclusion: The present study concluded that due to the significant correlation between serum ferritin levels and echocardiographic parameters, it is beneficial to conduct echocardiography in all patients of beta thalassaemia major in their first decade to gain a better understanding of cardiac function.