Short stature and body proportion in thalassaemia

Short stature and short trunk have been reported in thalassaemic patients. We report a study on stature and body proportions in 476 patients (2-36 yea rs old) with beta-thalassaemia major, followed in 12 Italian centres, Auxol ogical data (standing height, sitting height, subischial leg length, target height), haematological data (age at first transfusion, age at start of de sferrioxamine [DFX] chelation, mean dose of DFX, ferritin values) and infor mation regarding the presence of endocrine disorders and of bone lesions,we re collected and analysed according to the age of the patients, in order to investigate the natural history of the disproportion and the role of sider osis, DFX toxicity and endocrine disorders. Our data indicate that about 18 % of thalassaemic patients exhibit short stature; disproportion between the upper and lower body segments is present in 14%; however, a short trunk de spite normal stature is present in another 40% of patients. This is due to a spinal growth impairment which starts in infancy and progressively aggrav ates. We think that a short trunk is peculiar to the disease itself; howeve r, other factors such as hypogonadism, siderosis, or DFX-induced bone dyspl asia are probably involved in aggravating the body disproportion in these p atients.