DefinePK

Abstract

Background: Beta-thalassemia is an inherited hemoglobinopathy caused by mutations in the beta-globin gene, resulting in reduced or absent beta-globin chain synthesis. The imbalance in globin chains leads to ineffective erythropoiesis and severe anemia, especially in transfusion-dependent individuals. In regions like Pakistan, where the carrier frequency is high, regular blood transfusions are essential for survival in beta-thalassemia major patients. However, repeated transfusions contribute to progressive iron overload, making timely monitoring and management crucial. Serum ferritin serves as a simple, noninvasive, and cost-effective biomarker for assessing iron burden.
Objective: To evaluate the serum iron profile and transfusion frequency among beta-thalassemia major patients.
Methods: This cross-sectional study included 100 electrophoresis-confirmed beta-thalassemia major patients aged 2 to 19 years, admitted at Alkhidmat Thalassemia Care Centre, Lahore. Blood samples (2–3 mL) were collected using gel separator vials. Serum ferritin levels were analyzed using both manual ELISA and automated chemiluminescence immunoassays. Hemoglobin levels and the number of lifetime transfusions were also recorded. Data were analyzed using SPSS version 17.0.
Results: Among 100 patients, 55 were male (55%) and 45 female (45%), with a mean age of 9.68 ± 4.843 years. The average number of transfusions was 92.92 ± 34.677. Mean serum ferritin concentration was 2376.72 ± 749.03 ng/mL. Ferritin levels were <1500 ng/mL in 3 patients (3%), 1500–2500 ng/mL in 64 patients (64%), and >2500 ng/mL in 33 patients (33%). Mean hemoglobin concentration was 7.208 ± 0.7062 g/dL.
Conclusion: Serum ferritin remains an accessible and reliable indicator of iron overload in beta-thalassemia major patients. The findings underscore the importance of routine monitoring and effective chelation therapy to reduce iron-induced complications, improve quality of life, and guide evidence-based patient care.