Determination of glucose-6-phosphate dehydrogenase cut-off values in a Tunisian population

• Published in: Clinical chemistry and laboratory medicine Vol. 55; no. 8; pp. 1193 - 1201
• Main Authors: Laouini, Naouel, Sahli, Chaima Abdelhafidh, Jouini, Latifa, Haloui, Sabrine, Fredj, Sondes Hadj, Daboubi, Rym, Siala, Hajer, Ouali, Faida, Becher, Meriam, Toumi, Nourelhouda, Bibi, Amina, Messsaoud, Taieb
• Format: Journal Article
• Language: English
• Published: Germany De Gruyter 26.07.2017; Walter De Gruyter & Company
• Subjects: Adolescent; Adult; Blood Chemical Analysis - standards; Child; Classification; Correlation analysis; cut-off values; Dehydrogenase; Dehydrogenases; Deoxyribonucleic acid; DNA; Female; G6PD; Genotype; Glucose; Glucose 6 phosphate dehydrogenase; Glucosephosphate dehydrogenase; Glucosephosphate Dehydrogenase - blood; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - blood; Glucosephosphate Dehydrogenase Deficiency - genetics; Heterozygote; Humans; Incidence; Male; Males; molecular diagnosis; Mutation; Phosphates; Polymerase chain reaction; Reference Values; Sampling methods; Tunisia; Young Adult; glucose-6-phosphate dehydrogenase; G6PD; cut-off values; molecular diagnosis
• DOI: 10.1515/cclm-2016-0253
• ISSN: 1434-6621; 1437-4331

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the assessment. In this respect, we attempted in this study to set cut-off values of G6PD activity to discriminate among normal, heterozygous, and deficient individuals using the World Health Organization (WHO) classification and the receiver operating characteristics (ROC) curve analysis. Blood samples from 250 female and 302 male subjects were enrolled in this study. The G6PD activity was determined using a quantitative assay. The common G6PD mutations in Tunisia were determined using the amplification refractory mutation system (ARMS-PCR) method. The ROC curve was used to choice the best cut-off. Normal G6PD values were 7.69±2.37, 7.86±2.39, and 7.51±2.35 U/g Hb for the entire, male, and female groups, respectively. Cut-off values for the total, male, and female were determined using the WHO classification and ROC curves analysis. In the male population, both cut-offs established using ROC curve analysis (4.00 U/g Hb) and the 60% level (3.82 U/g Hb), respectively are sensitive and specific resulting in a good efficiency of discrimination between deficient and normal males. For the female group the ROC cut-off (5.84 U/g Hb) seems better than the 60% level cut-off (3.88 U/g Hb) to discriminate between normal and heterozygote or homozygote women with higher Youden Index. The establishment of the normal values for a population is important for a better evaluation of the assay result. The ROC curve analysis is an alternative method to determine the status of patients since it correlates DNA analysis and G6PD activity.