الفهرس 
overview of thalassemiaOnly 14 pages are availabe for public view
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Abstract
Introduction
Osteoporosis represents an important cause of morbidity in adult thalassemic patients.
Peroxisome proliferator-activated receptor-γ (PPAR γ) is a master transcriptional regulator involved in expression of probably hundreds of genes. Recent studies have suggested that PPAR-γ plays an important role in osteogenesis. Furthermore, PPARγ inhibition in mice, increased bone formation with no effect on bone resorption.
Aim of the work
Our aim was to investigate the frequency of Pro12Ala polymorphism in Egyptian β-thalassemia major (β-TM) patients and its possible influence on bone mineral density (BMD).
Methods
The study was conducted on 50 β-TM patients, their ages ranged from 10 to 18 years with a mean age of 15.4 ± 2.04 years, including 27 males and 23 females, and 50 healthy age and sex matched controls. Blood samples were analyzed for PPARγ gene polymorphism using polymerase chain reaction-restriction fragment length.
BMD was measured in all patients by dual energy X-ray absorptiometry (DEXA) of the lumbar spine.
Results
Low BMD (Z score is -1 or lower) was present in all thalassemic cases. There is a significant negative correlation between age, disease duration and BMD in patients with thalassemia .There was no statistically significant difference between BMD in thalassemic males (-3.2 ±-.85) and females (-3.5±-0.79) (p= 0.240). Also BMD is not statistically significantly correlated to patients weight, height, BMI, chelating drugs, mean ferritin index, history of splenectomy and hemoglobin concentrations.
Conclusion
Osteopenia and osteoporosis represented prominent complications in patients with β thalassemia major.
It was found that Pro12Ala polymorphism is unrelated to BMD in Egyptian thalassemic patients, however patients with GG genotype have underwent splenectomy at an earlier age, and the disease manifested earlier in the CG group.