Clinical Management and Vitamin-Mineral Deficiencies in Children with Beta-Thalassemia Major: A Study on 112 Cases

Abstract

Objective: Thalassemia major, an autosomal recessive genetic disorder, represents a significant healthcare concern worldwide. The hallmark of this condition is the deficiency in hemoglobin synthesis, resulting in chronic anemia and necessitating regular blood transfusions. This study endeavors to delve into the realm of pediatric patients afflicted by thalassemia major, with a particular focus on investigating potential vitamin and mineral deficiencies. By exploring these deficiencies, we aim to contribute to the broader understanding of the physiological implications of thalassemia major on growing individuals, shedding light on aspects that could impact their overall health and well-being. Material Methods: The current study constitutes a retrospective analysis of a meticulously curated dataset comprising 112 pediatric patients diagnosed with thalassemia major. The patients were drawn from diverse backgrounds and were subjected to rigorous assessment and evaluation. Comprehensive medical records, encompassing demographic information, clinical history, and laboratory findings, were meticulously reviewed. Results: The patients had a mean age of 8.14±12 years; among them, 59 (52.7%) were girls. The median hemoglobin and ferritin levels were 8.5 g/dL (range 6.5-10.6) and 2497 ml/ng (range 170-7417), respectively. The frequency of erythrocyte suspension (ES) transfusion in the patients was 1:2.7 weeks. The mean serum levels were 423.7 pg/mL (range 166-755) for vitamin B12, 6.6 ng/mL (range 1.55-16.4) for folic acid, 79.4 mg/dL (range 51-167) for zinc, and 111.07 mg/dL (range 67-190) for copper. Among the patients, 7 (6.25%) had a vitamin B12 deficiency, 35 (31.25%) had a folic acid deficiency, 27 (24.1%) had a zinc deficiency, and 10 (8.9%) had a copper deficiency. Conclusion: The exploration into pediatric thalassemia major unveils a landscape where folic acid and zinc deficiencies play a significant role. The detected prominence of these deficiencies prompts a call for focused interventions to address the potential health implications. Amid the intricate fabric of thalassemia major, the spotlight on folic acid and zinc deficiencies highlights an avenue for proactive healthcare strategies. By targeting these deficiencies, we hold the potential to improve the well-being and future prospects of young patients grappling with thalassemia major.