Elhadidy, A., Abdelhamid, A., Attia, F., Ibrahim, G., Ibrahim, M. (2023). Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital. Suez Canal University Medical Journal, 26(1), 100-106. doi: 10.21608/scumj.2023.342466
Ahmed A. Elhadidy; Alaa ELdin S. Abdelhamid; Fadia M. Attia; Gehan Ibrahim; Marwa A. Ibrahim. "Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital". Suez Canal University Medical Journal, 26, 1, 2023, 100-106. doi: 10.21608/scumj.2023.342466
Elhadidy, A., Abdelhamid, A., Attia, F., Ibrahim, G., Ibrahim, M. (2023). 'Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital', Suez Canal University Medical Journal, 26(1), pp. 100-106. doi: 10.21608/scumj.2023.342466
Elhadidy, A., Abdelhamid, A., Attia, F., Ibrahim, G., Ibrahim, M. Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital. Suez Canal University Medical Journal, 2023; 26(1): 100-106. doi: 10.21608/scumj.2023.342466
Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital
1Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Egypt
2Department of Pediatrics, Faculty of Medicine, Suez Canal University, Egypt
Abstract
Background:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is known to be the most common enzymopathy in the world affecting ~7% of the global population. The G6PDgene, located in the long arm of chromosome X (Xq28), consists of 13 exons and 12 introns encoding 515 amino acids. Over 200 G6PDmutations have been reported worldwide, where 140 mutations or combined mutations are found to be hematologically important. Aim:To assess the frequency of the G6PD Mediterranean (Med) gene mutation 563 C→T in children attending Suez Canal University Hospital and its relation to G6PD silent gene mutation 1311C→T. Subjects and Methods: This study was conducted on 50 G6PD deficiency patients who were previously diagnosed and confirmed by quantification of G6PD enzyme activity, 44 of them were males while 6 patients were females. The control group was 20 apparently healthy children with matched age and sex with the patients' group. Each of the study groups was tested for the following: complete blood count, G6PD enzyme activity quantification, and testing the presence or absence of the G6PD Med gene mutation and G6PD silent gene mutation using real-time PCR. Results: The current study shows the incidence of G6PDMed gene mutation in 26 patients (52%) and that 96.2% of G6PD patients with G6PD Med gene mutation had G6PD silent gene mutation. Conclusion: The current study shows the incidence of G6PD Med gene mutation in 52% of patients and that 96.2% of G6PD patients with Med Gene mutation had G6PD silent gene mutation. The presence of either G6PD Med gene mutation or both G6PD Med gene mutation and G6PD silent gene mutation together were insignificant in the prediction of G6PD status whether diseased or not. G6PD deficiency could be a consequence of a complex multifactorial mechanism probably related to both environmental factors and genetic modifiers.
View on SCiNiTO
Top