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  • Title: Identification of Mediterranean mutation in Egyptian favism patients.
    Author: Osman HG, Zahran FM, El-Sokkary AM, El-Said A, Sabry AM.
    Journal: Eur Rev Med Pharmacol Sci; 2014 Oct; 18(19):2821-7. PubMed ID: 25339475.
    Abstract:
    OBJECTIVES: Identify and screen the G6PD Mediterranean mutation in favism patients by applying a Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR). PATIENTS AND 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.
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