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BioMed Research International
Volume 2014, Article ID 174581, 5 pages
Research Article

Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications

1Rare Diseases Center, Department of Medicine and Medical Specialities, Ca’ Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy
2Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 20122 Milan, Italy
3Nuclear Medicine, Bone Metabolic Unit, Ca’ Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy

Received 4 April 2014; Revised 11 June 2014; Accepted 16 June 2014; Published 7 July 2014

Academic Editor: Paolo Ricchi

Copyright © 2014 M. Baldini et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objective. Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications in β-TI adult patients. Methods. We studied retrospectively 70 β-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) from , transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry. Results. Thirty-seven (53%) males and 33 (47%) females were studied, with mean age years, mean haemoglobin  g/dL, median ferritin 537 (range 14–4893), and mean LIC  mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%). Discussion and Conclusions. Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development.