الفهرس 
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Abstract
Thalassemia is considered the most common genetic disorder
worldwide, it occurs in a particulary high frequency in abroad belt
extending from the Mediterranean basin throught the Middle East, and
abundance in Egypt.
The thalassemias are a group of genetic (inherited) blood disorders
that share in common one feature, the defective production of hemoglobin.
There are many different disorders with defective hemoglobin synthesis
and, hence, many types of thalassemia. About 3% of the world’s population
(180 million people) carry ll-thalassemia genes.
The present study was carried out m the Biological Application
Department of Nuclear Research Center, Atomic Energy Authority and
Microbiology Department and Hematology unit of Pediatrics Department,
Faculty of Medicine, Zagazig University. This study included 75 patients,
their age ranged from 3-15 years and divided into two groups:
First group: Consists of 50 children (33 males & 17 females) had llthalassemia,
positive consanguinity present in 27 patients while positive
family history present in 17 patients. All of patients were blood transfusion
dependant.
Second group: Consists of 25 healthy children (17 males & 8
females) as a control group.
The aim of this study to determine the biochemical changes in serum
and study some of mutations in Intron-I of Il-globin gene of Il-thalassemic
children in our locality Sharkia province.
The hematological parameter such as Hb concentration, serum Iron,
TIBC, ferritin and Hb electrophoresis were done to both control and
patient groups. As well as the molecular studies, extraction of DNA,
amplification by using PCR and digestion by two restriction enzymes
NLaIII and BsmAI were carried out to two groups.
In this study the concentration of Hb cone. and TlBC were decreased,
which considered a more highly significant decreased. On the other hand,
the levels of serum iron, serum ferritin were increased, this increased were
more highly significant.
The hemoglobin electrophoresis was carried out for 41 patients who
had stayed without blood transfusion for two months, there were a
pronounced increased in the values of HbF and HbA2 this increased being
more highly significant. On the other hand, the level of HbA was decreased
and being more highly significant decreased.
The peR amplified product of intron-I of P-globin gene revealed only
6% of mutant thalassemic patients, while this percentage raised to 8% after
using restriction enzymes NLalll and BsmAl.
The present study revealed that the presence tour mutations occurred
in Intron-I of p-globin gene, one of them was deletional mutation represent
(2%), rare in occurance, and three were non deletional mutations represent
(6%).
In presence of new recent technique such as DNA sequencing the
sensitivity of this disease was raised in order to desing a national project
for studing the molecular defects of p-thalassemia, and prenatal diagnosis
to eradicate this disease, also the consanguineous marriage must be guarded
and discouraged.