Endocrinological evaluation of children with sickle cell anemia

Introduction and Purpose: Sickle cell anaemia (SCA) is a type of haemoglobinopathy in which the solubility of haemoglobin is impaired due to the replacement of valine with glutamic acid at position 6 of the β-globin chain. It is accepted that complications are the main determinant of the mortality and morbidity of sickle cell anaemia. In this study, we aimed to evaluate the endocrine complications that developed during the treatment of patients who were followed up with a diagnosis of sickle cell anaemia in the Department of Paediatric Haematology and Oncology, Dicle University Faculty of Medicine. Materials and Methods: The data of a total of 41 patients aged between 2 years and 18 years who were diagnosed with Sickle Cell Anaemia, who were regularly admitted and followed up in the Paediatric Haematology and Oncology Outpatient Clinic of Dicle University Medical Faculty Children's Hospital between 1 July 2023 and 1 July 2024 and who were followed up in the endocrine outpatient clinic once a year were included in the study. Results: A total of 41 patients, 24 girls and 17 boys, were included in the study. The patients were grouped as ferritin levels above and below 200 μg/l and no statistically significant difference was found between the groups when compared according to demographic characteristics including gender, age at diagnosis and current age (p>0.05). When the initial haemoglobin (g/dl), final haemoglobin (g/dl), haemoglobin S(%) and haemoglobin F(%) values of the patients included in the study were compared according to the ferritin level groups, the mean initial haemoglobin (g/dl) and final haemoglobin (g/dl) values of the patients with high ferritin levels were 7, 43±1.58 and 8.71±1.13, while the mean values of ferritin normal patients were 13.49±1.13 and 10.42±2.03, respectively. A statistically significant difference was found between the groups (p<0.001 and p=0.009, respectively). In the patients included in the study, a total of 91 endocrine complications were detected, at least one in all patients. The most common endocrine complications were vitamin D deficiency (34%), hypogonadism (14.3%) and insufficient vitamin D (8.8%). Conclusion: There is a high prevalence of metabolic changes and endocrine complications in individuals with sickle cell anaemia. Therefore, periodic anthropometric and endocrine evaluations, especially during adolescence, and adopting a comprehensive approach to this disease are extremely important in terms of reducing long-term complications and increasing life expectancy and quality of life. Keywords: Sickle cell anaemia, child, endocrine complication.