摘要

Background: beta-Thalassemia major is an inherited blood disorder with a high prevalence in the Mediterranean region. Osteoporosis represents an important cause of morbidity in beta-thalassemia major and its pathogenesis has not been completely elucidated. Genetic factors play an important role in the pathogenesis of osteoporosis and several candidate gene polymorphisms have been implicated in the regulation of this process. A G. T polymorphism in the regulatory region of the collagen type I alpha 1 (COLIAI) gene at a recognition site for transcription factor Sp1 has been strongly associated with osteoporosis. Aim: To determine the distribution of COLIAI polymorphism and its relationship with bone mineral density (BMD) in thalassemia major patients of North Indian. Material and Methods: G. T polymorphism was detected in 150 beta-thalassemia major patients by PCR-RFLP and their Bone mineral density (BMD) was measured by Dual Energy X ray Densitometry (DXA). Biochemical levels were estimated by ELISA. Results: The study indicated 19.8% of beta -thalassemia patients as homozygous for wild type G/G (SS), 35.8% as heterozygous G/T (Ss) and 43.4% as homozygous mutant T/T (ss) alleles. A significant association of Sp1 polymorphism with Z-score of BMD at hip (p = 0.047) and at lumbar spine (p= 0.001) region was observed. Conclusion: Our results raise the possibility that genotyping at the Sp1 site can be used to identify the osteoporosis susceptibility in thalassemia major patients in order to provide primary prevention and better management to them.