Clinical Profile of Beta Thalassemia and Iron Overload Status with Special Reference to Serum Ferritin - A Cross Sectional Observational Study in a Tertiary Care Hospital

Abstract

 Introduction: Beta-thalassemia is a hereditary blood disorder characterized by defective hemoglobin synthesis, leading to chronic anemia and its associated complications. It is especially prevalent in malaria-endemic regions, including India. Patients often require frequent blood transfusions, predisposing them to iron overload, a significant cause of morbidity and mortality. This study focuses on understanding the clinical presentation of beta-thalassemia and evaluating iron overload status using serum ferritin levels. Objective: To assess the clinical profile of patients diagnosed with beta-thalassemia and determine their iron overload status with special reference to serum ferritin concentrations. Methods: This hospital-based, cross-sectional observational study was conducted in the Department of Medicine at Tezpur Medical College and Hospital from August 2023 to July 2024. A total of 40 patients aged above 12 years, presenting with anemia and diagnosed with thalassemia, were included. Exclusion criteria were applied to rule out confounding causes of anemia. Clinical data were collected using structured questionnaires, and laboratory investigations included hemoglobin analysis via HPLC and serum ferritin estimation. Results: The majority of patients (62.5%) were male, with the highest incidence in the 12–20 year age group. Weakness, pallor, and splenomegaly were the most common symptoms. The frequency of blood transfusion varied widely, with most patients receiving transfusions every 26–30 days. Serum ferritin levels ranged from 251–500 ng/mL in most cases, with 10 patients exhibiting levels >1000 ng/mL, indicating significant iron overload. Conclusion: Thalassemia predominantly affects adolescents and males. Frequent transfusions contribute to iron overload, necessitating regular monitoring of serum ferritin to guide chelation therapy.