Abstract

BACKGROUND: G6PD deficiency is a widespread abnormality of glucose-6-phosphatedehydrogenase, a red cell enzyme, which gives rise to hemolysis under oxidative stress. In Turkey, G6PDdeficiency has a variable frequency in different regions. The prevalence and genotypes of G6PD deficiencyare not known in Denizli province of the Aegean region of Turkey. Accordingly, this study was designedto investigate the prevalence of enzyme deficiency and the distribution of the Mediterranean mutationof G6PD in this region.MATERIAL/METHODS: A total of 1950 students (918 females, 1032 males, ages between14 and 17) were screened by the Fluorescent Spot Test, and the G6PD deficiency was confirmed by quantitativespectrophotometric assay. The G6PD deficient subjects were further analyzed by the PCR/RFLP techniqueto identify the presence of the 563 T Mediterranean mutation.RESULTS: 24 of the subjects were found tobe deficient in this enzyme, a frequency of 1.23%. Of 24 deficient subjects, 19 (79%) had the 563 T Mediterraneanmutation.CONCLUSIONS: The frequency of G6PD enzyme deficiency appears to be low compared with those foundin the malaria-endemic Mediterranean region of Turkey. The molecular pathology of G6PD deficiency isrelated to the G6PD-563 T mutation in the Denizli region.

Keywords: Adolescent, Base Sequence, DNA Primers, Glucosephosphate Dehydrogenase Deficiency, Incidence, Turkey