Physiopathology of Bone Modifications inβ-Thalassemia

[摘要] β-thalassemia major (βTM) or Cooley anemia is characterized by significantly reduced or absent synthesis ofβ-globin chains, which induces important pathologic consequences including hemolytic anemia, altered erythropoiesis, and bone marrow overstimulation. The pathogenesis of bone changes in patients withβTM is not yet completely understood. However, an unbalance in bone mineral turnover resulting from increased resorption and suppression of osteoblast activity has been detected inβTM patients. The abnormal regulation of bone metabolism may be related to hormonal and genetic factors, iron overload and iron chelation therapy, nutritional deficits, and decreased levels of physical activity. Here, we review the most recent findings on the physiopathology of bone abnormalities inβTM. Clinical presentation and radiological features ofβTM-related bone changes are also discussed.

[学科分类] 血液学