• Sadia Hassan, Osheen Sajjad, Tehreem Fatima, Bushra Irum, Saqib Mehmood, and Uruj Zehra.
• Department of Anatomy, University of Health Sciences, Lahore, Pakistan.
• J Coll Physicians Surg Pak. 2023 Dec 1; 33 (12): 137913841379-1384.

ObjectiveTo explore the association of the COL1A1 Sp1 polymorphism with decreased bone density and spinal changes in β-thalassaemia patients.Study DesignCross-sectional, comparative study. Place and Duration of the Study: University of Health Sciences, Lahore, from May 2020 to June 2021.MethodologyA total of 110 participants (55patients and 55 controls) of either gender, with ages ranging from 18-40 years were enrolled in the study. Bone density parameters including T-score, Z-score, bone-transmission time (BTT), and amplitude-dependent speed of sound (ADSOS) were assessed by ultrasound bone profiler. Lumbar spine radiographs were collected from patients and assessed for spine changes. Genotype analysis was done by HRM-PCR. Data were analysed using SPSS version 23.ResultsAll bone density parameters were significantly lower in β-thalassaemai patients (p<0.001). Spine degenerative changes were more obvious in patients with age <25 years (p=0.04). Loss of lumbar lordosis was seen in 74.5% of the patients. The frequency of mutant allele (ss) was 7.3% while heterozygous (Ss) frequency was found to be 33.6%. The polymorphism showed significant association with T-scores (p=0.03) and ADSOS (p=0.02) in patients. Radiographic grades were higher in osteopenic and osteoporotic patients (p=0.04).ConclusionThe association of polymorphism with decreased bone density in β-thalassaemia patients revealed the potential role of genetics in bone changes and related disorders.Key WordsBone Density, COL1A1 Polymorphism, Osteoporosis, Thalassaemia.

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