Department of Pediatrics, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan; Department of Global Health and Population, Harvard T. H. Chan School of Public Health, Boston, United States.
Department of Laboratory Medicine, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan.
J Formos Med Assoc. 2020 Jan;119(1 Pt 1):69-74. doi: 10.1016/j.jfma.2019.03.010. Epub 2019 Apr 10.
Nationwide newborn screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency has been implemented in Taiwan since 1987 and the G6PD enzyme activity levels were applied for diagnosis confirmation. As the reference value of G6PD enzyme activity was not available for infants aged 7-90 days, this study was performed to determine the enzyme level in different genotypes.
Between January 1, 2016 and June 30, 2017, 410 term infants aged 7-90 days old visiting National Taiwan University Hospital Hsinchu branch were enrolled. The comparisons of G6PD enzyme activities among genotype groups were performed.
G6PD enzyme activity was negatively correlated with age (R = -0.212, p = 0.01). For infants under 30 days of age, the G6PD enzyme activity levels were 1.4 ± 0.9 U/g Hb in hemizygotes (n = 76), 6.5 ± 2.0 U/g Hb in heterozygotes (n = 47), and 13.6 ± 3.7 U/g Hb in those without G6PD mutations (n = 70). Among infants more than 30 days old, G6PD enzyme activity levels were 0.9 ± 0.5 U/g Hb in hemizygotes (n = 46), 6.0 ± 2.7 U/g Hb in heterozygotes (n = 23), and 11.7 ± 3.4 U/g Hb in those without G6PD mutations (n = 148). G6PD levels differed significantly among the groups defined by genotypes.
We determined G6PD enzyme activity levels in infants aged between 7 and 90 days in Taiwan. Completing the reference data and determining the cutoff values for different G6PD deficiency disease statuses will help pediatricians to make accurate diagnoses.
自 1987 年以来，台湾已在全国范围内对葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症进行新生儿筛查，并用 G6PD 酶活性水平进行诊断确认。由于 7-90 天龄婴儿的 G6PD 酶活性参考值不可用，因此进行了这项研究以确定不同基因型的酶水平。
本研究于 2016 年 1 月 1 日至 2017 年 6 月 30 日期间纳入了 410 名年龄在 7-90 天的足月婴儿，这些婴儿来自国立台湾大学医院新竹分院。比较了不同基因型组的 G6PD 酶活性。
G6PD 酶活性与年龄呈负相关（R=-0.212，p=0.01）。对于 30 天龄以下的婴儿，G6PD 酶活性在纯合子中为 1.4±0.9 U/g Hb（n=76），杂合子中为 6.5±2.0 U/g Hb（n=47），无 G6PD 突变的婴儿中为 13.6±3.7 U/g Hb（n=70）。30 天龄以上的婴儿中，G6PD 酶活性在纯合子中为 0.9±0.5 U/g Hb（n=46），杂合子中为 6.0±2.7 U/g Hb（n=23），无 G6PD 突变的婴儿中为 11.7±3.4 U/g Hb（n=148）。各组间的 G6PD 水平差异有统计学意义。
我们确定了台湾 7-90 天龄婴儿的 G6PD 酶活性水平。完成参考数据并确定不同 G6PD 缺乏症状态的临界值将有助于儿科医生做出准确的诊断。
