Search In this Thesis
   Search In this Thesis  
العنوان
Molecular genetics of alpha - thalassemia in Egypt /
الناشر
Mohamed Abdel-Rahman Shokeir,
المؤلف
Shokeir, Mohamed Abdel-Rahman.
هيئة الاعداد
باحث / Mohamed Abdel-Rahman Shokeir
مشرف / Hanem M. El-Tahan
مشرف / Luciano Terrenato
مشرف / Zakaria El-Morsy
مشرف / Abd El-Gawad Sheishaa
الموضوع
Alpha - thalassemia.
تاريخ النشر
1991.
عدد الصفحات
125 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/1991
مكان الإجازة
جامعة المنصورة - كلية الطب - DEPARTMENT OF PEDIATRICS
الفهرس
Only 14 pages are availabe for public view

from 153

from 153

Abstract

Molecular analysis has revealed that a great variety of mutations in the a globin gene cluster are responsible for these conditions and population studies have demonstrated a great variability in the incidence of a thalassemia in different world population. The aim of this work is to detect possible difference in the incidence of a thalassemia as a whole and to give a precise description of molecular types of a thalassemia in different part of Egypt. This study comprised 545 neonates which were subjected to thorough clinical examination. Cord blood sampling, Hb electrophoresis for detection of carriers of thalassemia and DNA analysis to map the a globin cluster in order to detect deletional forms of a thalassemia and restriction fragment length polymorphisms. In summary our results show that : 1- Total incidence of a thalassemia in Egypt is about 10%. 2- The most frequent at thalassemia is the a 3-7. 3- No _ a4-2 thalassemia is present. 4- No a thalassemia is present. 5- High degree of genetic heterogeneity exists within deletional a thalassemia type ; on the other hand carriers of non deletional a thalassemia show a much lower degree of heterogeneity.