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

J Int Med Res. 2014 Oct;42(5):1161-7. doi: 10.1177/0300060514531923. Epub 2014 Aug 28.


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.

Keywords: A376G; A− mutation; G202A; Glucose-6-phosphate dehydrogenase; Saudi population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

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


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