title: Identification of Mediterranean mutation in Egyptian favism patients.
abstract: OBJECTIVE
  Identify and screen the G6PD Mediterranean mutation in favism patients by applying a Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR).
  
  
  METHODS
  A total of 114 unrelated Egyptians patients were included in the present study; their ages ranged between (2-9) years with male to female ratio 4.5:1. G6PD activity was determined qualitatively from red cell hemolysate during attack. The G6PD Mediterranean mutation in patients has been identified by ARMS-PCR.
  
  
  RESULTS
  G6PD deficiency was detected in 87.7%, (n=100). The frequency of G6PD Mediterranean mutation was (94.7%), (n=108). The association between G6PD deficiency and Mediterranean mutation was a highly significant.
  
  
  CONCLUSIONS
  Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most common mutations causing G6PD deficiency among Egyptian children with favism.
authors.affiliation: Biochemistry Division, Chemistry Department, Faculty of Science, Mansoura University, Mansoura, Egypt. aelsokkary@mans.edu.eg.
authors.forename: H G
authors.initials: HG
authors.lastname: Osman
authors.forename: F M
authors.initials: FM
authors.lastname: Zahran
authors.forename: A M A
authors.initials: AM
authors.lastname: El-Sokkary
authors.forename: A
authors.initials: A
authors.lastname: El-Said
authors.forename: A M
authors.initials: AM
authors.lastname: Sabry
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005236:Favism / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D017127:Glycation End Products, Advanced; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D017127:Glycation End Products, Advanced; D005954:Glucosephosphate Dehydrogenase