Mediterranean Glucose-6-Phosphate Dehydrogenase (G6PD(C563T)) Mutation Among Jordanian Females with Acute Hemolytic Crisis

作者：Al Alimi Abdullah Abdul Jabbar Ahmed; Kanakiri Naeem; Kamil Muhammad^*; Al Rimawi Hala Saleh; Zaki Abdul Hamid; Yusoff Narazah Mohammad

来源：Journal of the College of Physicians and Surgeons Pakistan, 2010, 20(12): 794-797.

• Favism
• G6PD deficiency
• Polymerase chain reaction
• Hemolysis
• Jordan

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).

• 出版日期2010-12