Thalassaemia Patients with Polymorphism of COL1A1 Sp1 are at Greater Risk of Spine Degenerative Changes.

Abstract

To explore the association of the COL1A1 Sp1 polymorphism with decreased bone density and spinal changes in β-thalassaemia patients. Cross-sectional, comparative study. Place and Duration of the Study: University of Health Sciences, Lahore, from May 2020 to June 2021. A 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. All 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). The association of polymorphism with decreased bone density in β-thalassaemia patients revealed the potential role of genetics in bone changes and related disorders. Bone Density, COL1A1 Polymorphism, Osteoporosis, Thalassaemia.