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العنوان
The association of Peroxisome proliferator- activated receptor-γ Pro12 Ala gene polymorphism with bone disorder in children with β-Thalassemia /
المؤلف
Hussein, Ahmad Mahmoud Abdel Hamied.
هيئة الاعداد
باحث / أحمد محمود عبد الحميد حسين
مشرف / عبد المجيد أبو المجد
مشرف / داليا صابر مرجان
مشرف / دينا حسن الدهشان
مشرف / هبة مصطفى أحمد
الموضوع
Peroxisomes. Peroxisomes Receptors. Bones Diseases Diagnosis. Bones Diseases Treatment. Thalassemia Diagnosis. Thalassemia.
تاريخ النشر
2019.
عدد الصفحات
92 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
الناشر
تاريخ الإجازة
8/1/2019
مكان الإجازة
جامعة بني سويف - كلية الطب - طب الاطفال
الفهرس
Only 14 pages are availabe for public view

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Abstract

Summary β-Thalassemia disease is a type of hemoglobinopathy that is caused by a disorder in a partial or complete synthesis of the chain of hemoglobin (Hb) (Voskaridou and Terpos 2004).
Most patients require regular blood transfusion and chronic transfusions leads to pathologic iron accumulation. Iron overload is usually the main cause of death, heart failure , skeletal complications such as osteoporosis and osteopenia (Giguere, et al. 2004). Thalassemic patients are more prone to bone mass, because of both the underlying disease and complications of treatment . Anemia, overactive bone marrow, excess iron deposition in the bones , and endocrine related problems are the major mechanism of bone loss in β–thalassemia major patients (Vogiatzi, et al. 2004). Previous studies suggested that osteopenia is one of the important factors of mortality in young adults with β–thalassemia (Voskaridou, et al. 2005 ).
In previous years, studies have proposed that genetic factors play an important role in BMD level (Giguere, et al. 2000).
It has been found that genetic factors influence the BMD levels in patients with β–thalassemia (Guzeloglu, et al 2008). Peroxisome proliferator-activated receptor-γ (PPARγ ) is a subtype of the PPAR family that regulate lipid and glucose metabolism (Chinetti, et al.2005 ).
This study was conducted on one hundred children. Fifty of them are diseased with β–thalassemia major. Their ages range was 8 to 18 years . The remaining fifty children are healthy and free of any hemolytic anemia representing the control group.
from 50 β–thalassemia patients, 29 males (58%) and 11 females (22%) with mean age equals 12.1600±3.5 years. Eighteen ( 11 males and 7 females ) of fifty patients represents 36 % of the patients group have osteopenia with low bone mineral density Z-score is -1 or less than -1. To there is a significant difference regarding BMD between patients group to control group .No statistically significant difference between BMD in males and females.
The hemoglobin level was lower and the ferritin level was higher in patient group in relative to the control group while no significant difference between the patients and control groups regarding to the level Calcium , phosphorus and alkaline phosphatase enzyme.
On the other hand, five of fifty patients had 12Ala PPARγ gene polymorphism in from of heterozygous genotype (CG) polymorphism (only two of them have low BMD and the other three patients have normal BMD ), the remaining forty five patients had CC genotype . So it had been shown that no association between the genotype 12Ala gene polymorphism and low BMD (osteopenia ) in thalassemic patients .