Clinical Complications of Thalassemia with Emphasis on Iron Overload and Outcomes of Iron Chelation Therapy

Abstract

Introduction: β-thalassemia is an inherited disorder causing ineffective erythropoiesis and chronic anemia, with transfusion-dependent patients requiring lifelong transfusions that predispose to progressive iron overload. Excess iron commonly affects the liver, heart, endocrine system, skeleton, and skin. Serum ferritin is widely used to monitor iron burden, while oral chelation is essential for reducing iron accumulation. This study evaluated iron overload, related complications, chelation response, and associations of ferritin, adherence, and chelator dose among children with TDT.

Materials and Methods: This hospital-based observational study included 30 children with transfusion-dependent β-thalassemia receiving regular transfusions and oral chelation therapy over two years. Demographic, clinical, transfusion, chelation, adherence, biochemical, echocardiographic, and hepatic imaging data were recorded. Iron burden and treatment response were assessed using baseline and post-treatment serum ferritin levels. Associations with complications, adherence, and chelator dose were analysed using Fisher’s exact test, with p<0.05 considered significant.

Results: The study included 30 children with TDT; 56.7% were female, 80.0% were diagnosed within the first year, 76.7% required transfusions every 3 weeks, and 70.0% had undergone splenectomy. Hemolytic facies (46.7%) and hyperpigmentation (36.7%) were the commonest complications. Baseline ferritin exceeded 2500 ng/mL in 63.3%, while after chelation 73.3% had ferritin ≤2500 ng/mL. Cardiomegaly with pulmonary hypertension was significantly associated with ferritin >3000 ng/mL (33.3% vs 0%; p=0.014). Adherence was significantly higher with final chelator doses ≤30 mg/kg (94.1% vs 61.5%; p=0.027).

Conclusion: Iron overload was common and associated with clinically important complications, particularly cardiac involvement. Oral chelation therapy reduced serum ferritin levels, while adherence was significantly associated with lower chelator requirements. These findings emphasize regular monitoring of iron burden, complications, treatment response, and adherence in children with transfusion-dependent β-thalassemia.