title: Osteoporosis in beta-thalassemia: Clinical and genetic aspects.
abstract: 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).
authors.affiliation: Ospedale Microcitemico, University of Cagliari, Via jenner, 09121 Cagliari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Origa
authors.forename: E
authors.initials: E
authors.lastname: Fiumana
authors.forename: M R
authors.initials: MR
authors.lastname: Gamberini
authors.forename: S
authors.initials: S
authors.lastname: Armari
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: A
authors.initials: A
authors.lastname: Sangalli
authors.forename: E
authors.initials: E
authors.lastname: Paglietti
authors.forename: R
authors.initials: R
authors.lastname: Galanello
authors.forename: C
authors.initials: C
authors.lastname: Borgna-Pignatti
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000209:etiology / Q000235:genetics; D009202:Cardiomyopathies / Q000209:etiology; D024042:Collagen Type I / Q000235:genetics; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000209:etiology; D047628:Estrogen Receptor alpha / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D007037:Hypothyroidism / Q000209:etiology; D008297:Male; D010024:Osteoporosis / Q000209:etiology* / Q000235:genetics; D018003:Receptors, Calcitonin / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications* / Q000235:genetics
chemical_list: D024042:Collagen Type I; D047628:Estrogen Receptor alpha; D018003:Receptors, Calcitonin; D018167:Receptors, Calcitriol