Renal and cardiac involvements in children with transfusion-dependent thalassemia: A cross-sectional analysis

Thalassemia is caused by a mutation in the globin genes of hemoglobin synthesis. Renal and cardiac complications may develop due to iron overload and chronic anemia seen in transfusion-dependent thalassemia (TDT). The aim of this study was to evaluate renal and cardiac function in pediatric TDT patients and to identify contributing risk factors. In this study, the data of 20 TDT patients aged 0-18 years who received regular transfusions at Konya City Hospital were retrospectively reviewed. The patients' demographic data, laboratory, and imaging results were obtained from their medical records. Renal function was assessed by estimating the glomerular filtration rate (eGFR) using creatinine/cystatin-C. Cardiac function was assessed by electrocardiography (ECG) and echocardiography (ECHO). Malnutrition was observed in seven (35%) of the 20 patients included in the study. The mean hemoglobin level of the patients was 9.25 g/dL, and the mean serum ferritin level was 3074.5 ng/mL. In the renal evaluation, the mean serum creatinine was 0.32 mg/dL, cystatin C was 1.00 mg/L, and eGFR was 129 mL/min/1.73 m². Glomerular hyperfiltration was observed in 12 (60%) of the patients, proteinuria in 5 (25%), and hypercalciuria in 3 (15%). In the cardiac evaluation, left ventricular hypertrophy was observed in 7 (35%) patients by ECHO and in 3 (15%) patients by ECG. Hypotension was observed in 3 (15%) patients, and non-dipper blood pressure patterns were observed in 2 (10%) patients.

In pediatric TDT patients, hyperfiltration, tubular dysfunction, and left ventricular hypertrophy may be observed in the early stages due to anemia and iron overload. A regular and multidisciplinary approach is required for patients to reduce long-term complications.

• Iron overload and chronic anemia in children with TDT lead to complications in the kidneys (hyperfiltration, tubular dysfunction) and heart (left ventricular hypertrophy). • Cardiovascular changes such as low blood pressure and non-dipper pattern associated with anemia are common.

• A positive correlation between hemoglobin levels and kidney function (eGFR) and a negative correlation between ferritin and LVH have been identified. The relationship between growth retardation and anemia/iron overload has been emphasized.