Endocrinological evaluation of pediatric patients with beta thalassemia

Thalassemia major is an inherited disease caused by excessive beta-globin chain production and characterized by chronic hemolytic anemia. The increase in iron production leads to accumulation in the tissues and organs and results in complications depending on the accumulation area. Our study aimed to determine the endocrinological complications in patients with thalassemia major, receiving regular transfusion. 105 patients with thalassemia major who are still being followed up in Gaziantep Medical Faculty Pediatric Hematolog Oncology Outpatient Clinic were included in the study. Patients' physical examinations, heights, weight, fasting glucose, thyroid function tests, biochemical parameters and, the most recent liver 3 tesla MR T2 * values were noted. According to our results, low HDL, vitamin D deficiency, short stature, hypothyroidism, insulin resistance, and hypogonadism were 79%, 73.3%, 55.2%, 21%, 10.5%, 2.8% of the cases, respectively. The median value of the patients' ferritin levels was 1723 ng/dl. The most common mutation was detected as IVS-I-110 G>A (24.7%) in our study. In patients with diabetes mellitus, the most common mutation was found to be IVS-I-110 G>A. In conclusion, the most common complications were found to be low HDL, vitamin D deficiency, and growth retardation in order of frequency. Subclinical hypothyroidism was present in the majority of patients with hypothyroidism. A significant correlation was found between fasting glucose and liver 3 tesla MR T2 * values. Thyroid functions should be evaluated at regular intervals during outpatient clinic controls to avoid subclinical hypothyroidism in thalassemia patients. Keywords: Thalassemia major, ferritin, short stature, child