Body Iron Status and Its Complications in Patients With Beta Thalassemia Major: A Cross-Sectional Study

Introduction: Thalassemia is a genetic condition and is one of the commonest single-gene hereditary disorders. As it is among a group of hemoglobinopathies, it consists of a decrease in either alpha or beta globin chain synthesis. This eventually leads to the inappropriate ratio of alpha or beta globin chains causing ineffective erythropoiesis. Ineffective erythropoiesis thus causes chronic anemia and haemopoietic expansion to compensate for it. Aims & Objectives: This study aimed to investigate the serum ferritin levels of patients with beta thalassemia major presenting in a tertiary care hospital in Lahore, Pakistan and study the complications that occur with an abnormal iron load. Place and Duration of Study: It was conducted at CMH Hospital, Lahore, and completed over a period of one and a half year, from June 2021 to January 2023. Material & Methods: It was a descriptive cross-sectional study. The sample size of 32 was calculated using Raosoft calculator, with 90% Confidence Interval, 9% margin of error and 10.5% response distribution.Data was collected using an interviewer-administered questionnaire that compromised of 4 parts, demographics and socio-economic background of patient and caretakers; medical history and anthropometric measurement of the patient; details regarding serum ferritin levels and chelation; and lastly, laboratory (for example, TSH, T4, HbA1c and ALT for all patients, as well as FSH and LH for only those patients greater than 10 years of age), ultrasound, and cardiac echocardiography findings.Collected data was entered and analyzed in SPSS version 24. P value of <0.05 was taken as significant. Results: In this study, thirty-two patients with beta thalassemia major were included with mean age of 7.79 ± 4.57 years. Mean serum ferritin was 3410±2629µg/l and lack of compliance to chelation had significant association with serum ferritin values (p=0.05). Serum ALT levels showed that hepatic dysfunction was the most common endocrine complication in 17 (53.1%) patients. There was a significant association between compliance and echocardiography findings (p=0.04). No significant association of compliance was found with ultrasound findings, serum TSH and T4 levels, serum ALT levels and serum FSH and LH levels. Conclusion: This study concluded that high ferritin levels ultimately lead to significant complications.