TY - JOUR
T1 - Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Oman
AU - Al-Sheryani, Ammar
AU - Al-Gheithi, Hajer
AU - Moosawi, Muntadhar Al
AU - Al-Zadjali, Shaoib
AU - Wali, Yasser
AU - Al-Khabori, Murtadha
N1 - Publisher Copyright:
© 2023, Oman Medical Journal.
PY - 2023/9/1
Y1 - 2023/9/1
N2 - Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most encountered abnormality of red blood cell metabolism worldwide and has a high prevalence in Oman. The objective of the study was to characterize the mutation variants of G6PD deficiency in a cohort of the Omani population with partial and complete enzyme deficiency. Methods: This prospective study included newborns and children less than one year of age with partial or complete G6PD enzyme deficiency identified on routine screening using a fluorescent spot test from 31 January 2017 to 12 September 2017 in Sultan Qaboos University Hospital. The identified samples were analyzed for the presence of C563T, G1003A, and other mutations using direct DNA sequencing of the polymerase chain reaction. Results: Out of 3679 newborn samples screened, 21.0% were found to have complete or partial G6PD enzyme deficiency. A total of 145 participants were included in the genetic analysis, of which 133 (91.7%) were completely deficient in G6PD enzyme activity and 12 (8.3%) had partial deficiency. The Mediterranean variant (C563T) was identified in 129 (89.0%). Other variants were found as follows: eight (5.5%) had variant A-, three (2.1%) had the Chatham variant (G1003A), one (0.7%) had the Cosenza variant, and one (0.7%) had exon 11 variant. No mutation was found in two subjects. Conclusions: The most common mutation in the Omani population is the Mediterranean mutation (C563T) followed by the variant A-mutation. However, not all participants were found to have a mutation.
AB - Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most encountered abnormality of red blood cell metabolism worldwide and has a high prevalence in Oman. The objective of the study was to characterize the mutation variants of G6PD deficiency in a cohort of the Omani population with partial and complete enzyme deficiency. Methods: This prospective study included newborns and children less than one year of age with partial or complete G6PD enzyme deficiency identified on routine screening using a fluorescent spot test from 31 January 2017 to 12 September 2017 in Sultan Qaboos University Hospital. The identified samples were analyzed for the presence of C563T, G1003A, and other mutations using direct DNA sequencing of the polymerase chain reaction. Results: Out of 3679 newborn samples screened, 21.0% were found to have complete or partial G6PD enzyme deficiency. A total of 145 participants were included in the genetic analysis, of which 133 (91.7%) were completely deficient in G6PD enzyme activity and 12 (8.3%) had partial deficiency. The Mediterranean variant (C563T) was identified in 129 (89.0%). Other variants were found as follows: eight (5.5%) had variant A-, three (2.1%) had the Chatham variant (G1003A), one (0.7%) had the Cosenza variant, and one (0.7%) had exon 11 variant. No mutation was found in two subjects. Conclusions: The most common mutation in the Omani population is the Mediterranean mutation (C563T) followed by the variant A-mutation. However, not all participants were found to have a mutation.
KW - Glucosephosphate Dehydrogenase
KW - Glucosephosphate Dehydrogenase Deficiency
KW - Oman
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U2 - 10.5001/omj.2023.107
DO - 10.5001/omj.2023.107
M3 - Article
C2 - 38225994
SN - 1999-768X
VL - 38
JO - Oman Medical Journal
JF - Oman Medical Journal
IS - 5
M1 - e552
ER -