title: Beta-thalassaemia intermedia: evaluation of endocrine and bone complications.
abstract: 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 T2*, 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 41 ± 12 years, mean haemoglobin 9.2 ± 1.5 g/dL, median ferritin 537 (range 14-4893), and mean LIC 7.6 ± 6.4 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%).
  
  
  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.
authors.affiliation: Rare Diseases Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Baldini
authors.affiliation: Rare Diseases Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Marcon
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 20122 Milan, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Cassin
authors.affiliation: Nuclear Medicine, Bone Metabolic Unit, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: F M
authors.initials: FM
authors.lastname: Ulivieri
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 20122 Milan, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Spinelli
authors.affiliation: Rare Diseases Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy ; Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 20122 Milan, Italy.
authors.forename: M D
authors.initials: MD
authors.lastname: Cappellini
authors.affiliation: Rare Diseases Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Graziadei
mesh_terms: D000328:Adult; D001847:Bone Diseases / Q000150:complications*; D001851:Bone Diseases, Metabolic / Q000150:complications; D004700:Endocrine System Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000150:complications; D017086:beta-Thalassemia / Q000150:complications*
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