Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population

• DOI: 10.1007/s00277-022-04923-7
• Publication Date: 2022-07-15T19:02:32Z
• Authors: Anchalee Thedsawad; Wanchai Wanachiwa...; Orathai Taka; Chattree Hantawee...
• Keywords: Heterozygote advantage; Compound heterozygosity; Glucose-6-Phosphate Dehydrogenase Deficiency

In heterozygous females, X-inactivation causes a change in glucose-6-phosphate dehydrogenase (G6PD) activity from normal to deficient. Most G6PD screening tests are used accurately diagnose hemizygous males, but they less reliable for diagnosing females. This study established flow cytometric cut-off values of deficiency males and or homozygous We studied 205 (125 80 males) leftover blood samples quantitative methemoglobin reduction (MR) screening. gene mutations determined by multiplex amplification refractory mutation system-polymerase chain reaction direct DNA sequencing were as the gold standard reference. Accuracy test, including sensitivity, specificity, positive negative predictive values, was analyzed using MedCalc software. The optimal classification %red cells with %bright into normal, heterozygous, females 85.4-100%, 6.3-85.3%, 0-6.2%, respectively (sensitivity 93.2%, specificity 100%). cut-offs 76.5-100% 0-76.4%, 100%, 96.5%). Flow cytometry can be differentiate intermediate phenotype cannot distinguish between extreme By cytometry, detected 29.6% 3.2% respectively. Among found 31.3%. screen patients deficiency, reliably efficiently identify based on cellular activity.