Endocrine abnormalities in children with Beta thalassaemia major.

ABSTRACT

Background: Endocrine complications in β-thalassaemia major patients in developing countries are likely to occur at younger ages due to suboptimal iron chelation. Objective: To assess the prevalence of endocrine abnormalities and correlate serum ferritin, degree of anaemia and liver dysfunction with endocrine dysfunction Method: A cross sectional study was carried out in B. J. Wadia Hospital, over a period of 2 years, on all children with β-thalassemia major over the age of 4 years receiving regular blood transfusions. Patients with transfusion dependent anaemia other than β-thalassemia major were excluded. Results: The total number of children over 4 years of age with β-thalassaemia major receiving regular blood transfusions during the study period was 135. Mean haemoglobin was 7.8 ± 0.6g/dl and the mean serum ferritin level 5295 ± 2736ng/ml. The most common endocrine abnormality was delayed puberty (68%). Seventy one (52.5%) patients had short stature with the height Z-score 2.8±0.8. Hypocalcaemia was observed in 40 (38%) patients. Ten (9.4%) patients had hypoparathyroidism while in 7 (6.6%) it was suspected based on hypocalcaemia, high phosphorus and normal alkaline phosphatase. Rickets was seen in 25 (23.5%) patients. Hypothyroidism was present in 22 (22%) patients of whom 14 had compensated hypothyroidism. Insulin resistance, impaired fasting glucose/impaired glucose tolerance (IFG/IGT) and diabetes mellitus were seen in 7.6%, 4.4% and 2.6% patients respectively. Mean age of patients with delayed puberty was 15.8±1, short stature 10.3±3.4, hypoparathyroidism 10.4±4.2, hypothyroidism 10.4±3, IFG/IGT 10.4±2 and diabetes mellitus 14.2±1.2 years. Bone mineral density was done in 48 patients older than 10 years. Eighteen (37.5%) patients had spinal osteoporosis. Five patients had more than one endocrine abnormality. Conclusions: There were no statistically significant differences between the patients with and without endocrine abnormalities with respect to serum ferritin, mean pre-transfusion haemoglobin and liver dysfunction except for ferritin in patients with hypoparathyroidism and diabetes mellitus.