Endocrine complications and nutrition in transfusion dependent thalassaemia patients

Endocrine Complications and Nutrition in Transfusion Dependent Thalassaemia Patients Thalassaemia is a blood disease characterised by anaemia caused by inadequate synthesis or non-synthesis of the globin chain in haemoglobin. Complications due to chronic anaemia, tissue hypoxia and iron accumulation in tissues are observed in transfusion- dependent thalassaemia patients who are monitored with regular erythrocyte transfusions and chelation therapies for increased iron load. Endocrine complications and nutrition are important for the comfort of life in patients with increased survival with current treatment methods. The aim of our study was to determine the endocrine complications, serum vitamin and mineral levels, nutritional status and iron load in transfusion-dependent thalassaemia patients. The study population consisted of transfusion-dependent thalassaemia patients who were followed up and treated in Aydın Adnan Menderes University Faculty of Medicine, Department of Paediatrics, Division of Paediatric Haematology between December 2023 and December 2024. The 27 patients included in the study were evaluated in terms of endocrine complications; dyslipidaemia 25.9% (n=7), short stature 22.2% (n=6), growth hormone deficiency 18.5% (n=5), low bone mineral density 18.5% (n=5), impaired fasting glucose 11%, 1 (n=3), impaired glucose tolerance 15.4% (n=2), hypothyroidism 7.4% (n=2), delayed puberty 3.7% (n=1) and hypogonadism 3.7% (n=1). Hypoparathyroidism, insulin resistance, diabetes mellitus and adrenal insufficiency were not observed. The rate of patients with at least one endocrine complication was 59.3% (n=16). In our study, the circulating levels of vitamins and minerals and the percentage of meeting the estimated average requirement were evaluated. The rates of vitamin and mineral deficiency were selenium 74.1% (n=20), vitamin C 59.3% (n=16), vitamin D 25.9% (n=7), folate 11.1% (n=3), vitamin A 3.7% (n=1), zinc 3.7% (n=1), copper 3.7% (n=1). No patient with vitamin E and vitamin B12 deficiency was found. In our study, the proportion of individuals who could not meet the estimated mean vitamin and mineral requirements was found to be vitamin D 100% (n=27), selenium 88.9% (n=24), copper 66.7% (n=18), zinc 51.9% (n=14), folate 48.1% (n=13), vitamin E 48.1% (n=13), vitamin C 37.0% (n=10), vitamin B12 18.5% (n=5), vitamin A 3.7% (n=1). Nutritional deficiency was common in the patients and it is thought that this may be related with anorexia due to chronic disease process or socioeconomic level. In patients with adequate nutritional intake, circulating vitamin and mineral levels were low and this may be due to increased catabolism. Transfusion-dependent thalassaemia patients should be followed up regularly by paediatric haematology and paediatric endocrinology departments in terms of endocrine complications. For optimal growth and development, it should be ensured that the nutritional requirements of the patients are adequately met. Transfusion-dependent thalassaemia patients with poorer growth and development compared to their healthy peers should be evaluated at regular intervals, nutritional counselling should be provided and necessary nutritional supplements should be recommended. Nutrition guidelines specific to transfusion-dependent thalassaemia patients should be established.