الفهرس 
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Abstract
Summary
Glucose 6 phosphate dehydrogenase is the most common
human enzyme defect being present in more than 400 million
people worldwide. About 140 mutations have been described;
Molecular characterization of G6PD deficiency variants is
essential, especially since the biochemical characterization has
lost its significance as a means of identifying variants.
Aim of the study: Genotyping of the most common
mutations causing G6PD deficiency in Egyptian children, and
Making genotype-phenotype correlation for the identified types
of mutations affecting G6PD gene on Xq28.
Patients and Methods: the present study, included 100
G6PD deficient Egyptian children, attended hematology clinics
at Ain shams University Hospital. A full medical record were
reviewed as regard age at diagnosis, demographic data, the
offending agent which precipitated the first attack, history of
blood transfusion and g6pd level at diagnosis. the patients were
investigated by CBC with retics, indirect bilirubin, MDA
quantitative G6PD enzyme and detection of change of colour of
urine) after intake of beans rather than fava beans, moreover all
the samples went throught PCR-ARMS, ASO PCR, RFLP
technique for detecting the different types of G6PD enzyme
mutation.
Summary
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Results: we were found G6PD Mediterranean mutation
in 53% of cases (from which54.7% had G6PD 1311T silent
polymorphism), Cairo mutation in(13%) of cases, African
mutation in 16% of cases, Chatham mutation in 4% of cases,
Santmaria in 1% of cases and Asahi mutation in 1%. One
patient only is heterozygote Mediterranean (symptomatic
carrier). 83 of patients were symptomatic; of these, 64
demonstrated acute haemolytic crisis and need blood
transfusion induced mainly by ingestion of fava beans and 61
had neonatal jaundice. Acute haemolytic anemia was found
in79% of subjects of Mediterranean variant, in 56% with the
African variant, in 61.5% with Cairo variant, 50% with
Chatham variant, 0% in santmaria variant and 0% in Asahi
variant, no statistically significant difference between the
studied groups in different types of mutation as regard blood
transfusion requirement by using chi-square test. Enzymatic
activity was shown to be a poor predictive parameter of acute
hemolytic crises (moreover the G6PD level was declined in
Mediterranean and African mutation while increasing in other
mutation) and was not correlated with clinical features. we
found no statistically significant difference between studied
patients in different types of mutation and other variables(age at
diagnosis, offending agents, g6pd level, [CBC with retics,
indirect bilirubin and MDA after eating of legumes rather than
fava beans taken in small amount (5-20 gm) per day for 3
successive days]) by using Kruskall Wallis test P value(>0.05).
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However, it should be noted that the MDA level measured in
the cases was higher than those in the control.
Our results showed 6 variations. G6PD Mediterranean
then African variant are the most common mutations in the
studied patients followed by Cairo mutation. This is the first
report of G6PD Santamaria, chatham and Asahi among our
Egyptian population. The risk of all types of legumes rather
than fava beans to cause haemolysis in G6PD deficient children
will be further studied in higher quantities and for longer
periods to detect the degree of haemolysis