Osteoporosis in β-Thalassemia: Clinical and Genetic Aspects

• Published in: Annals of the New York Academy of Sciences 2005-11, Vol.1054 (1), p.451-456
• Main Authors: ORIGA, R., FIUMANA, E., GAMBERINI, M. R., ARMARI, S., MOTTES, M., SANGALLI, A., PAGLIETTI, E., GALANELLO, R., BORGNA-PIGNATTI, C.
• Format: Article
• Language: English
• Subjects: Adult; Amenorrhea - etiology; beta-Thalassemia - complications; beta-Thalassemia - genetics; Bone Density; Bone Diseases, Metabolic - etiology; Bone Diseases, Metabolic - genetics; Cardiomyopathies - etiology; Collagen Type I - genetics; Diabetes Mellitus - etiology; DNA Mutational Analysis; Estrogen Receptor alpha - genetics; Female; Genetic Predisposition to Disease; Humans; Hypogonadism - etiology; Hypothyroidism - etiology; Male; osteoporosis; Osteoporosis - etiology; Osteoporosis - genetics; Receptors, Calcitonin - genetics; Receptors, Calcitriol - genetics; thalassemia intermedia; thalassemia major
• ISSN: 0077-8923; 1749-6632
• DOI: 10.1196/annals.1345.051

: Osteoporosis and osteopenia are frequent complications of thalassemia major (TM) and intermedia (TI). Osteoporosis was found in 23/25 patients with TI and in 115/239 patients with TM. In TM, no association was found with specific polymorphisms in candidate genes (vitamin D receptor, estrogen receptor, calcitonin receptor, and collagen type 1 alpha 1). Osteoporosis in female patients with TM was strongly associated with primary amenorrhea (P < .0001), while in male patients with TM, hypogonadism was not significantly related to bone mineral density (BMD) (P= .0001). Low BMD was also associated with cardiomiopathy (P= .01), diabetes mellitus (P= .0001), chronic hepatitis (P= .0029), and increased ALT (P= .01).