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العنوان
Study of β-Globin Gene Mutation Frequency at (IVS1-110) of Thalassemic Children Using DNA Sequencing /
المؤلف
Abo Ghanima, Nabila Mohamed Abd El-Atif.
هيئة الاعداد
باحث / نبيله محمد عبد اللطيف أبو غنيمة
مشرف / أمانى محمد ابو العينين
مشرف / عادل عبد الحليم حجاج
مشرف / انعام صلاح عبد البر
الموضوع
Clinical Pathology.
تاريخ النشر
2014.
عدد الصفحات
p 131. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب
تاريخ الإجازة
14/9/2014
مكان الإجازة
جامعة طنطا - كلية الطب - clinical pathology
الفهرس
Only 14 pages are availabe for public view

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from 172

Abstract

-thalassemia is one of the genetic diseases which can be broadly defined as a syndrome of inherited hemoglobin disorders characterized by a quantitative deficiency of functional -globin chains Beta thalassemia is caused by more than 200 mutations that affect different levels of the beta-globin gene expression by a variety of mechanisms. These mutations are ethnic-group specific; thus, only 4-6 ccount for the majority of beta-thalassemia alleles in each population It has been estimated that about 3% of the world population are heterozygous for β-thalassemia and more than 300.000 children in the world are born with severe β-globin gene disorder each year The clinical severity of thalassemia major makes it a priority genetic disease for prevention programs involving population screening of heterozygotes and optional prenatal diagnosis for carrier couples.