Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation
Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent and add a burden on families
 in Egypt and Middle East due to lifelong diet restriction, non-fava beans diet is main food
 for most families in the region and parents and doctors consider it as a prohibited food
 whatever the genetic or clinical phenotypes. The effective management is avoiding a spectrum
 of food and drugs causing oxidative stress. No data is available about the hazards of
 consumption of non-fava beans diet.
Investigate the effect of challenge of non-fava beans diet on occurrence of hemolysis in both
 common and rare mutations causing G6PD deficiency in Egyptian children as well as making a
 genotype-phenotype correlation. Patients and Methods: The study will include all G6PD
 deficient children who were regularly followed up in Pediatric Hematology Center, Ain Shams
 University over last decade from 2004-2014 who stopped eating non fava-bean diet since their
 diagnosis as G6PD deficient and willing to participate in the diet challenge. They will be
 enrolled in a one year prospective study involving quantitative analyses for enzymatic
 activity, and molecular typing of G6PD enzyme using a polymerase chain reaction-amplification
 refractory mutation system (PCR-ARMS) technique. Patient's medical records will be reviewed
 as history of blood transfusion and G6PD level at diagnosis. Initial phase will be dietetic
 challenge with ingestion of non-fava beans taken in small amount (10-20 gm/day for 3
 successive days ) for children with haemoglobin level ≥ 11 gm/dl with daily clinical and
 laboratory monitoring by complete blood count, and markers of hemolysis as well as
 measurement of malondialdehyde (MDA) level both basal and at study end. A drop of Hb of ≥0.5
 gm/dl and / or appearance of hemoglobinuria is considered a significant hemolysis. Patients
 who will not meet the definition of significant hemolysis will be prospectively followed up
 for one year with follow up during their chronic exposure by complete blood count and
 hemolysis markers/ 3 months.
Inclusion Criteria:

 -  All children with proved enzymatic deficiency of G6PD.

 -  Patients who met the criteria of hemoglobin level at study time ≥ 11 gm/dl

 Exclusion Criteria:

 -  patients with another enzyme deficiency