الفهرس 
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Abstract
β- thalassemia major is a hereditary hemoglobinopathy characterized by profound anemia due to a defect in the ability of erythroblasts to synthesize the β-chain of adult hemoglobin.
The pathogenesis of thalassemia-induced bone disease is multifactorial and includes bone marrow expansion, endocrine dysfunction, and iron overload, as well as genetic susceptibility to low peak bone mass.
Collagen type I is an important component of the bone matrix. So, polymorphism affecting Sp1 binding site in the transcriptional control region of the COL1A1 gene. The homozygous variant G/G resulted in one fragment at 264-bp, homozygous variant T/T resulted in one fragment at 246-bp while the heterozygous variant G/T resulted in 2 fragments at 264 and 246-bp. Clinical studies have shown that patients with ‘T’ allele are likely to have reduced BMD and osteoporotic fractures in several populations.
The aim of this work is to study association of COL1A1 gene polymorphism with osteoporosis in patients with Beta thalassemia.
This study included 80 subjects. They were classified as 60 patients (29 females &31 males) of beta thalassemia with ages ranged from 4-15 years and 20 apparently healthy subjects cross matched with age and sex.
All patients of this study were subjected to full history taking, clinical examination, routine investigations (complete blood count, Hb electrophoresis,serum ferritin, serum calcium level, serum alkaline phosphatase, bone density by DXA) and specific laboratory testing as (detection of COLIAI gene polymorphism by PCR-RFLP).