Origa R, Fiumana E, Gamberini M R, Armari S, Mottes M, Sangalli A, Paglietti E, Galanello R, Borgna-Pignatti C
Ospedale Microcitemico, University of Cagliari, Via jenner, 09121 Cagliari, Italy.
Ann N Y Acad Sci. 2005;1054:451-6. doi: 10.1196/annals.1345.051.
Osteoporosis and osteopenia are frequent complications of thalassemia major (TM) and intermedia (TI). Osteoporosis was found in 23/25 patients with TI and in 115/239 patients with TM. In TM, no association was found with specific polymorphisms in candidate genes (vitamin D receptor, estrogen receptor, calcitonin receptor, and collagen type 1 alpha 1). Osteoporosis in female patients with TM was strongly associated with primary amenorrhea (P < .0001), while in male patients with TM, hypogonadism was not significantly related to bone mineral density (BMD) (P = .0001). Low BMD was also associated with cardiomiopathy (P = .01), diabetes mellitus (P = .0001), chronic hepatitis (P = .0029), and increased ALT (P = .01).
骨质疏松症和骨质减少是重型地中海贫血（TM）和中间型地中海贫血（TI）的常见并发症。在25例TI患者中有23例发现骨质疏松，在239例TM患者中有115例发现骨质疏松。在TM患者中，未发现与候选基因（维生素D受体、雌激素受体、降钙素受体和1型胶原蛋白α1）的特定多态性有关。女性TM患者的骨质疏松与原发性闭经密切相关（P <.0001），而男性TM患者的性腺功能减退与骨密度（BMD）无显著相关性（P =.0001）。低骨密度还与心肌病（P =.01）、糖尿病（P =.0001）、慢性肝炎（P =.0029）和谷丙转氨酶升高（P =.01）有关。
