Abstract
Osteopenia/osteoporosis of multi-factorial pathogenetic mechanism is reported to be a significant cause of morbidity in adult patients with beta-thalassaemia major. Even in young patients, decreased Bone Mineral Density (BMD) values are a consistent finding in the literature. This study was performed in order to assess BMD in children and young adults with beta-thalassaemia major, regularly transfused and sufficiently chelated, along with auxological, clinical and laboratory parameters. Thirty-five young thalassaemic patients (19 F, 16 M, aged 5-20 yr) were studied. Lumbar BMD was assessed by dual X-ray absorptiometry (DXA) and Z-scores were calculated according to bone density values using age- and sex-matched normal population. None of the patients presented with clinical or laboratory signs of endocrinopathy and none was receiving hormonal replacement therapy. All BMD Z-scores were within normal range, with a mean Z-score of 0.42 for girls and -0.41 for boys (statistically significant gender difference, p=0.018). When correlated with age, a decline in Z-scores was observed, indicating a delay in bone mass acquisition with advancing age in the thalassaemic group compared to controls. Optimal conventional treatment prevents the manifestation of osteopenia/osteoporosis during the first two decades of life in patients with beta-thalassaemia major. However, close surveillance with regular screening, preventive intervention and early management of possible endocrine complications are essential in order to secure normal bone health during adulthood and improve quality of life in the thalassaemic population.
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