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Abstract
This study was carried out on Clinical Patholgy and Pediatric
artments, Zagazig University Hospital.
The aim of this study was to detect different gene mutations
mg B-thalassaemia trait individuals by PCR and to determine
role of PCR in the diagnosis of silent carriers. It included 40
jects classified into 2 groups:
Group I : Included 20 hetrozygous B-thalassaemia carriers,
.cted from parents of children with B-thalassaemia major.
Group II : Included 20 apparently healthy subjects, served as
trol group.
!All members of the study were subjected to the following
estigations
History taking and complete clinical examination.
Routine investigations including: CBC, reticulocytic count, Hb
electrophoresis and estimation of serum iron & serum bilirubin.
Special investigations including: OPOF, HBA2 quantitation by
hromatography and qualitative detection of B-thalassaemia
utations by using PCR-based allele specific oligonucleotides.
Statistical analysis was done and came to the following :
- No ’significant difference in serum bilirubin & serum iron and
between the carrier and control groups.