Osteoporosis in -Thalassemia Major Patients: Role of COLIA1 Gene G-T Polymorphism
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- Category: Vol. 77, March 2009
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Osteoporosis in -Thalassemia Major Patients: Role of COLIA1 Gene G-T Polymorphism,HALA F. SHEBA, IBTESSAM M.R. HUSSEIN, MONA F. ABD EL-GAWAD, AMAL EL-BESHLAWY, MOSHERA E. ZAKI, MONA HAMDY, AMAL RIZK and SOMAIA M. MOUSA
Abstract
Background: Growth impairment and osteoporosis are serious causes of morbidity in patients with b-thalassemia major (b-TM). Desferoxamine (DFO) toxicity and iron over-load have been proposed as the main underlying reasons. G-T polymorphism in regulatory region of COLIA1 gene has recently been associated with reduced bone mass and os-teoporotic fractures in postmenopausal women.
Objectives: To detect the possible implication of COLIA1 gene polymorphism in pathogenesis of osteoporosis in b-TM.
Study Design: Twenty five patients with b-TM and 20 healthy controls were investigated for the G-T polymorphism of COLIA1 gene using restriction enzyme analysis. Bone mineral density (BMD), growth parameters, serum ferritin level and duration of chelation therapy were also assessed.
Results: We detected a heterozygous polymorphism of COLIA1 gene in 12% of b-TM patients and 25% of the control group. Thalassemic patients had significant lower BMD than normal controls (p<0.01). Significant correlation was observed between low BMD and both duration of DFO intake and high ferritin level. Within the control group: Subjects with G/T genotype had significantly lower femoral and lumber BMD than those with G/G genotype. In thalassemic patients: No significant difference was found in BMD between the two COLIA1 genotypes.
Conclusion: We cannot detect evident role for COLIA1 gene polymorphism in the pathogenesis of osteoporosis in this group of b-TM patients although this role has been detected in the control group. Further studies that include higher number of patients and more than one genetic poly-morphism are needed in order to evaluate the role of genetic factors in the pathogenesis of osteoporosis in thalassemic patients.