Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population.

Abstract

OBJECTIVES:

To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency.

METHODS:

Blood samples were obtained from healthy male Saudi donors and screened for G6PD deficiency using a fluorescent spot test. Samples from subjects shown to be G6PD deficient and controls were then analysed for the presence of the G202A and A376G mutations on exons 4 and 5, respectively, of the G6PD gene using polymerase chain reaction followed by restriction fragment length polymorphism.

RESULT:

A total of 2100 male subjects were screened; of these, 100 (4.76%) were shown to be G6PD deficient. The G6PD A- mutation (presence of both G202A and A376G) was observed in two (2%) of the 100 subjects with G6PD deficiency. There was no significant difference in the frequency of this mutation between those with G6PD deficiency and controls.

CONCLUSION:

The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.

• Authors: Khalid Khalaf Alharbi, Imran Ali Khan
• Journal: The Journal of international medical research (J Int Med Res) Vol. 42 Issue 5 Pg. 1161-7 (Oct 2014) ISSN: 1473-2300 [Electronic] England
• PMID: 25169987 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Chemical References

• Glucosephosphate Dehydrogenase
• glucose-6-phosphate dehydrogenase A-

Topics

• Adolescent
• Adult
• Case-Control Studies
• Follow-Up Studies
• Genotype
• Glucosephosphate Dehydrogenase (genetics)
• Glucosephosphate Dehydrogenase Deficiency (epidemiology, genetics)
• Humans
• Male
• Middle Aged
• Mutation (genetics)
• Polymerase Chain Reaction
• Prevalence
• Prognosis
• Saudi Arabia (epidemiology)
• Young Adult