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العنوان
Impact Of Some Genetic Mutations And Their Correlated Physiological Factorys On The Distribution Of Thalassemia In Port Said ”Egypt” Seaside /
المؤلف
Ibrahim, Amany Abdullah.
هيئة الاعداد
باحث / Amany Abdullah Ibrahim
مشرف / Zohour I. Nabil
مشرف / Ahmed A.El-Lwah
مناقش / Akram M. Abouzied
الموضوع
Mutations. Thalassemia.
تاريخ النشر
2012.
عدد الصفحات
111 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
علم الحيوان والطب البيطري
تاريخ الإجازة
1/1/2012
مكان الإجازة
جامعة قناة السويس - المكتبة المركزية - قاعة الرسائل الجامعية - رسائل كلية العلوم - علم الحيوان
الفهرس
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Abstract

Summary
Thalassemias are the commonest genetic disorders in
humans that present an increasing public health problem in the
tropical countries in which they occur at a high frequency.
There are many different forms of thalassemias, all resulting
from mutations of the genes which are responsible for
regulating the structure and synthesis of haemoglobin. These
diseases are all transmitted in a Mendelian fashion; parents,
who are symptomless carriers, each pass on a defective gene to
a severely affected offspring.
Thalassemias are particularly associated with people of
Mediterranean origin, Arabs, and Asians. In Egypt, no definite
national screening program has yet been developed for
detection of thalassemia carriers to diminishe the spread of
thalassemia and protects the offspring from suffering of this
disease.
Prenatal diagnosis is an important procedure to early
distinguish thalassemia even though it is not an activated
procedure in Egypt, to carry out on suspected individuals with
thalassemia history in their families.
The goal of the present ’study to screen thalassemia in Port
Said seaside especially n the absence of a record about the
incidence of thalassemic individuals there. This study is carried
out on selected samples for unrelated Egyptian individuals
using laboratory tests that especially detect thalassemia such as
complete blood capture (CBC), blood film, osmotic fragility
test, and finally polymerase chain reaction (PCR) which detect
thalassemia samples and their types. DNA sequencing was done