Bone disease in patients with thalassaemia major is a multifactorial and st
ill poorly understood process. The present study evaluated 45 thalassaemic
patients using dual X-ray absorptiometry at three sites (lumbar spine, head
of femur and forearm) to assess bone mineral density, in parallel with a s
eries of biochemical markers to measure bone formation and bone resorption.
To identify possible interfering factors, our patients were grouped accord
ing to whether or not they needed transfusion therapy; the presence of hypo
gonadism was also considered. Our results showed that patients on regular t
ransfusions had a markedly low bone mineral density in contrast to those no
t requiring blood support and that this finding was more pronounced in the
hypogonadic group, irrespectively of sex. The decrease of bone mineral dens
ity values was more prominent in the forearm, thus making this site particu
larly interesting for such studies. Bone formation, as evidenced by the lev
els of serum alkaline phosphatase and osteocalcin, did not appear to be imp
aired, while bone resorption was grossly increased in all patient groups. T
he latter process was clearly evident using the recently introduced measure
ment of the urinary N-terminal peptides of collagen type I, the sensitivity
of which has already been established in other groups of osteoporotic pati
ents. Our conclusion is that, in spite of the severe bone destruction that
occurs in thalassaemia major, the fact that bone formation remains intact c
alls for a more intensive treatment comprising hormonal replacement, bispho
sphonates and other agents.