The prevalence of endocrinopathies among patients with thalassemia major in the district of Batticaloa, Sri Lanka

Abstract

Introduction: Thalassaemia major is an inherited haemoglobinopathy characterised by chronic anaemia. Excessive iron overload and suboptimal chelation result in deposition of iron in various tissues including endocrine glands. Objective: To estimate the prevalence of endocrinopthies in patients with thalassemia major among patients attending clinics at Teaching Hospital Batticaloa. Materials and Methods: Cross sectional descriptive study of patients with thalassemia major on active follow up from June 2015 to 2016 at Teaching Hospital Batticaloa. Height, weight, and tanner staging, serum ferritin, oral glucose tolerance test, bone profile, liver and renal function, thyroid function, cortisol for all patients and FSH, LH, testosterone or oestradiol for girls over 13 years of age and boys over 14 years of age were assessed. Results: A total of 95 patients including 50 females with the mean age of 11.83±4.53 years were evaluated. Shortstature was found in 55(57.8%). Hypocalcaemia was present in 36(37.8%) and 24(25%) had hypothyroidism. Diabetes mellitus and impaired glucose tolerance (IGT) were found in 7(7.4%) and 13(13.2%) respectively. Only 2 (2.1%) had cortisol deficiency. Among girls over 13 and boys over 14 years of age, 33(78.6%) had hypogonadism. Sixty six patients with mean serum ferritin level above 2500ng/mL had higher incidence of hypocalcaemia, hypothyroidism, hypogonadism, and short stature (28 vs 5;p=0.004, 18 vs 6;p=0.048, 28 vs 5;p=0.03, and 39 vs 16;p=0.054 respectively) than those who had less than 2500ng/mL. Patients who were above 9 years of age had higher incidence of hypocalcaemia (32 vs 2;p=0.00), short stature (33 vs 22;p=0.026), and IGT (11 vs 2;p=0.017) when compared to younger patients. Conclusions: A significant proportion of thalassemia major patients have endocrinopathies. Hypothyroidism and short stature develop very early and other endocrinopathies also develop earlier indicating the need for early screening compared to the recommended guidelines. As the duration of thalassemia increases the risk for developing endocrinopathies is high.

Keywords

• thalassaemia major, endocrinopathy, diabetes mellitus and risk factors