Association of type 1 collagen (COLIA1) gene polymorphism with osteoporosis in thalassemia major

Objectives The objective of this article is to study the association of COLIA1 gene polymorphism with osteoporosis in thalassemia major. Background Beta-thalassemia is a group of autosomal recessive hereditary hemoglobinopathy characterized by a deficiency or absence of B globin chain of adult hemoglobin. Osteoporosis is common sequelae in these patients. Several genes are involved in the development of osteoporosis such as collagen type I alpha 1, vitamin D receptors, estrogen receptors, and interleukin-6 which monitor bone mineral density and bone shape and structure. COLIA1 encodes the alpha 1 chain of collagen type I which is the most abundant structural protein in the bone matrix. Patients and methods Sixty patients with beta-thalassemia (29 women, 31 men) aged 4–15 years and 20 healthy participants were cross-matched with age and sex. Serum calcium, serum phosphorus, serum alkaline phosphatase, and dual-energy radiograph absorptiometry scan were examined in the studied groups. The COLIA1 gene polymorphism was measured by restriction fragment length polymorphism-PCR. Results The study indicated that the SS genotype in thalassemia is 48.3%, but higher in the control group (80%). The Ss genotype in thalassemia is 43.3% but lower in the control group (20%) and the ss genotype in thalassemia is 8.3 but in the control group is 0% (P = 0.042). The frequency of S alleles in thalassemia is 70% but in the control group is 90% and the frequency of s alleles in thalassemia is 30% but in the control group is 10% (P = 0.011). Conclusion Early detection of the SP1 binding site on the COLIA1 gene polymorphism among thalassemic patients could help in the management of these patients.