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  • Title: Mediterranean glucose-6-phosphate dehydrogenase (G6PD(C563T)) mutation among Jordanian females with acute hemolytic crisis.
    Author: Al-Alimi AA, Kanakiri N, Kamil M, Al-Rimawi HS, Zaki AH, Yusoff NM.
    Journal: J Coll Physicians Surg Pak; 2010 Dec; 20(12):794-7. PubMed ID: 21205543.
    Abstract:
    OBJECTIVE: To evaluate the G6PD(C563T) Mediterranean mutation among Jordanian females who were admitted to Princess Rahma Teaching Hospital (PRTH) with/or previous history of favism. STUDY DESIGN: A descriptive study. PLACE AND DURATION OF STUDY: Jordanian University of Science and Technology and PRTH, from October 2003 to October 2004. METHODOLOGY: After obtaining approval from the Ethics Committee of Jordanian University of Science and Technology, a total of 32 females were included in this study. Samples from 15 healthy individual females were used as a negative control. Blood samples from these patients were collected and analyzed by allele-specific polymerase chain reaction (AS-PCR) to determine the G6PD(C563T) mutation. RESULTS: Twenty one out of 32 patients were found to be G6PD(C563T) Mediterranean mutation (65.6%) positive. Three out of 21 patients were homozygous and remaining 18 were heterozygous for G6PD(C563T) Mediterranean mutation. Eleven (34.4%) out of 32 patients were found to be negative for G6PD(C563T) mutation indicating the presence of other G6PD mutations in the study sample. CONCLUSION: G6PD(C563T) Mediterranean mutation accounted for 65.6% of the study sample with favism in the North of Jordan. There is likely to be another G6PD deficiency variant implicated in acute hemolytic crisis (favism).
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