Search In this Thesis
   Search In this Thesis  
العنوان
GENETIC SCREENING FOR COMMON ALPHA
THALASSEMIA MUTATIONS IN CORD BLOOD
SAMPLES AMONG EGYPTIAN NEWBORNS/
الناشر
Cairo University.Faculty of medicine.Department of Clinical & Chemical Pathology,
المؤلف
El Zohairy,Khaled El Sayed Mohamed .
تاريخ النشر
2008 .
عدد الصفحات
147p.
الفهرس
Only 14 pages are availabe for public view

from 169

from 169

Abstract

The α thalassemias are common genetic disorders ranging from silent
to a very severe anemia due to reduced α globin chains. In our study a
screening of α thal deletions was made among 400 Egyptian neonates
using CBC, blood indices, alkaline pH Hb electrophoresis and single
tube multiplex PCR co-amplifying the 4 α globin genes simultaneously.
It was found that the number of α thalassemic neonates was 38 (9.5%
of all subjects). Deletions were divided as 4.5% α+ thal heterozygous (-
α/αα), 3% α+ thal homozygous (-α/-α), 1.75% α0 thal heterozygous (--
/αα) and 0.25% Hb H disease (--/-α) with no cases of α0 thal
homozygous (--/--). α+ thal was found to be the commonest allele.