The ineffective erythropoiesis causes bone marrow expansion and cortical thinning. Thalassemia major, when not properly treated,  is associated with facial and limb deformities, the latter resulting in short stature.

Also, individuals treated with blood transfusions and sufficient iron chelation therapy are at risk of bone pain and fractures. The risk of vertebral fractures increase with age and are related to bone mass and hypogonadism.

Long bone metaphyseal irregularities and abnormal vertebrae may resemble bone dysplasias.

Bone pain increases with age and more often affects females. The pain does not seem to be related to a history of fractures or vertebral deformities.