Endocrinologic evaluation of children diagnosed with Thalassemia Major

Introduction and Purpose: Thalassemia is a genetic disorder characterized by the inability to produce one or more of the globin chains that make up hemoglobin, leading to anemia. Nowadays, the survival rate of patients with thalassemia major has significantly improved through blood transfusions and chelation therapies. However, as life expectancy increases, complications can arise in various organs and systems. The emergence of endocrine, cardiac, and hepatic complications can significantly impact the quality of life for these patients. This study aims to evaluate the endocrine complications detected during the follow-up and treatment of patients who were diagnosed with Thalassemia Major and followed up and treated in the Department of Pediatric Hematology and Oncology, Dicle University Faculty of Medicine. Materials and Methods: Our study included patients aged 1 month to 18 years who were diagnosed with Thalassemia Major and were under the follow-up of the Department of Pediatric Hematology and Oncology at Dicle University Faculty of Medicine's Children's Hospital, as well as annual follow-up at the Endocrinology Clinic, between May 1, 2023, and May 1, 2024. The patients' age, gender, body weight, height, and laboratory findings were evaluated. Results: A total of 32 patients were included in this study, comprising 17 females and 15 males. Patients were grouped as Ferritin levels above and below 2500 μg/1. They were compared according to demographic characteristics such as gender, age, height, weight and body mass index (BMI). No statistically significant difference was found between the two groups(p=0.59, p=0.43, p=0.52, p=0.37, p=0.25, respectively). In the patients included in the study, a total of 72 endocrine complications were identified. The most commonly observed endocrine complications were vitamin D deficiency/insufficiency(37.5%), adrenal insufficiency(15.2%), and hypogonadism (13.8%). Conclusion: Beta thalassemia is a chronic disease that can cause complications affecting multiple systems and requires close monitoring and treatment with a multidisciplinary approach. Effective treatment should be started with appropriate chelation, vitamin, mineral and hormone support for patients with complications detected at an early stage.This can be highly beneficial for maintaining the body iron load at safe optimum levels and preventing endocrine complications. Keywords: Endocrine Complications, Ferritin, Thalassemia Major.