Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates

作者：Miao Jing Kun; Chen Qi Xiong; Bao Li Ming; Huang Yi; Zhang Juan; Wan Ke Xing; Yi Jing; Wang Shi Yi; Zou Lin; Li Ting Yu^*

来源：Clinica Chimica Acta, 2013, 424: 131-135.

DOI：10.1016/j.cca.2013.05.004

• G6PD deficiency
• Newborn screening
• Cut-off value
• Heterozygotes
• Female

Background: Conventional screening tests to assess G6PD deficiency use a low cutoff value of 2.10 U/gHb which may not be adequate for detecting females with heterozygous deficiency. The aim of present study was to determine an appropriate cutoff value with increased sensitivity in identifying G6PD-deficient heterozygous females. %26lt;br%26gt;Methods: G6PD activity analysis was performed on 51,747 neonates using semi-quantitative fluorescent spot test. Neonates suspected with G6PD deficiency were further analyzed using quantitatively enzymatic assay and for common G6PD mutations. The cutoff values of G6PD activity were estimated using the receiver operating characteristic curve. %26lt;br%26gt;Results: Our results demonstrated that using 2.10 U/g Hb as a cutoff, the sensitivity of the assay to detect female neonates with G6PD heterozygous deficiency was 83.3%, as compared with 97.6% using 255 U/g Hb as a cutoff. The high cutoff identified 21% (8/38) of the female neonates with partial G6PD deficiency which were not detected with 2.10 U/g Hb. Our study found that high cutoffs, 235 and 2.55 U/g Hb, would increase assay%26apos;s sensitivity to identify male and female G6PD deficiency neonates, respectively. %26lt;br%26gt;Conclusions: We established a reliable cutoff value of G6PD activity with increased sensitivity in identifying female newborns with partial G6PD deficiency.

• 出版日期2013-9-23
• 单位重庆医科大学