Endocrine and bone disease in appropriately treated adult patients with beta-thalassemia major

Marina Baldini (1) , Stella Forti (2) , Alessia Marcon (1) , Fabio Massimo Ulivieri (3) , Alessandra Orsatti (1) , Benedetta Tampieri (1) , Lorena Airaghi (4) , Laura Zanaboni (1) , Maria Domenica Cappellini (1)

1 Internal Medicine 1 A, Department of Internal Medicine
2 Audiology Unit
3 Nuclear Medicine, Bone Metabolic Unit
4 Internal Medicine 1 B

With the optimization of transfusional and chelation regimens, beta-thalassemia has changed from a pediatric disease with poor life expectancy into a chronic disease. Bone demineralization is an important cause of morbidity in older patients; the etiology is multifactorial and partially unknown. We examined, cross-sectionally, 111 adult patients with beta-thalassemia major (66 females and 45 males, 32.6 ± 6 years) who were regularly transfused, sufficiently chelated and replaced for endocrine defects. Bone demineralization was detected in 92.7% of patients with different severity according to gender and site: osteopenia was the prominent finding at the femur, osteoporosis at the lumbar spine ( < 0.001), more evident in males. The femoral site was more influenced by biochemical and clinical factors; despite adequate replacement, the femoral T-score was lower in the hypogonadic group than in the eugonadic group ( = 0.047). A significant correlation was found between the bone mass and body mass index (BMI), alkaline phosphatase (ALP), and pre-transfusional Hb levels. The multivariate analysis indicated as significant regressors ALP, BMI and hypoparathyroidism (T-score,  = 0.005, 0.035, and 0.002; Z-score, 0.002, 0.009, and 0.003, respectively) at the femoral site; whereas, only ALP at the lumbar spine ( = 0.008 and 0.045 for T-and Z-scores, respectively). The statistical significance was reached more frequently by the T-score, while the Z-score seemed to be a less sensitive parameter. Despite best care facilities, bone demineralization in thalassemic patients remains a challenge. Further exploration of the relationships between bone loss and endocrine, biochemical and hematologic parameters is warranted to find effective measures to reduce the risk of fracture in this disease.

Mots clés: Thalassemia; Osteoporosis; Iron overload; Endocrinopathy

Marina Baldini, Stella Forti, Alessia Marcon, Fabio Massimo Ulivieri, Alessandra Orsatti, et al.. Endocrine and bone disease in appropriately treated adult patients with beta-thalassemia major. Annals of Hematology, 2010, 89 (12), pp.1207-1213. ⟨10.1007/s00277-010-1007-0⟩. ⟨hal-00550268⟩