Division of Orthopedic Surgery, Department of Surgery, American University of Beirut Medical Center, Beirut, Lebanon.
Bone. 2011 Mar 1;48(3):425-32. doi: 10.1016/j.bone.2010.10.173. Epub 2010 Oct 28.
Increased survival in patients with β thalassemia major (TM) allowed for several complications of the disease and its treatment to manifest, one of which is bone disease. Osteoporosis in this patient population results from a variety of genetic and acquired factors. Early diagnosis and prevention are essential and several measures have been evaluated for management including bisphosphonates. Fracture prevalence in TM patients seems to be clustered in mid adulthood, and is related to vitamin D deficiency and low bone mineral density. Fracture healing in patients with TM does not seem to be different from that in normal individuals. Bone and joint pain are a common manifestation of the underlying pathophysiology or may be related to iron chelator intake. Intervertebral disc changes are seen in patients who are heavily iron overloaded or those who are chelated with deferoxamine. Spinal deformity is common in TM, yet the prognosis is benign with spontaneous resolution frequently observed. Further research is warranted to evaluate the mechanisms, clinical implications, and optimal management of bone disease in this patient population.
β 地中海贫血重型（TM）患者的生存率提高，导致许多疾病及其治疗的并发症显现，其中之一是骨骼疾病。该患者人群的骨质疏松症源于多种遗传和后天因素。早期诊断和预防至关重要，已经评估了多种管理措施，包括双膦酸盐。TM 患者的骨折发生率似乎集中在中年，与维生素 D 缺乏和骨密度低有关。TM 患者的骨折愈合似乎与正常人没有不同。骨骼和关节疼痛是潜在病理生理学的常见表现，也可能与铁螯合剂的摄入有关。重度铁过载或用去铁胺螯合的患者会出现椎间盘变化。TM 患者脊柱畸形很常见，但预后良好，常自发缓解。需要进一步研究来评估该患者人群中骨骼疾病的发病机制、临床意义和最佳管理。
