Bone disease and skeletal complications in patients with β thalassemia major

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.

Research Highlights
► Osteoporosis in β thalassemia major patients is common and attributed to several genetic and acquired factors.
► Bone pain and fractures have characteristic features in β thalassemia major patients.
► Intervertebral disc changes are mainly attributed to severe iron overload or iron chelation therapy with older agents.
► Scoliosis has a favorable prognosis with many patients showing spontaneous resolution without the need for intervention.