Huizhou Second Maternal and Child Health Hospital, Huizhou, 516001, People's Republic of China.
Guangdong Maternal and Child Health Hospital, Guangzhou, 510000, People's Republic of China.
Ann Hematol. 2024 Jan;103(1):29-36. doi: 10.1007/s00277-023-05533-7. Epub 2023 Nov 16.
This study aimed to investigate the incidence rate and spectrum of gene mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Huizhou city of southern China to provide a scientific basis for disease prevention and control in the area.
From March 2003 to December 2022, newborn screening for G6PD enzyme activity was carried out in Huizhou city using the fluorescence quantitative method. Infants who tested positive during the initial screening were diagnosed using the nitroblue tetrazolium ratio method, while a subset of infants received further gene mutation analysis using the multicolor probe melting curve analysis method.
A total of 1,291,274 newborns were screened and the screening rate has increased from 20.39% to almost 100%. In the 20-year period, 57,217 (4.43%) infants testing positive during the initial screening. Out of these infants, 49,779 (87%) were recalled for confirmatory testing. G6PD deficiency was confirmed in 39,261 of the recalled infants, indicating a positive predictive value of 78.87%. The estimated incidence rate of G6PD deficiency in the region was 3.49%, which was significantly higher than the average incidence rate of 2.1% in southern China. On the other hand, seven pathogenic G6PD variants were identified in the analysis of the 99 diagnosed infants with the most common being c.1388 G > A (48.5%), followed by c.95 A > G (19.2%), c.1376 G > T (15.2%), c.871 G > A (9.1%), c.1360 C > T (3.0%), c.392 G > T (3.0%), and c.487 G > A (1.0%).
The incidence of G6PD deficiency in newborns in the Huizhou city was higher than the southern China average level, while the types and frequencies of gene mutations were found to vary slightly from other regions. Our findings suggested that free government screening and nearby diagnosis strategies could reduce the incidence of G6PD deficiency in the area.
本研究旨在调查中国南方惠州市葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的基因突变发生率和谱，为该地区的疾病预防和控制提供科学依据。
2003 年 3 月至 2022 年 12 月，采用荧光定量法对惠州市新生儿进行 G6PD 酶活性筛查。初筛阳性的患儿采用硝基四氮唑蓝比值法进行诊断，部分患儿采用多色探针熔解曲线分析方法进行基因突变分析。
共筛查 1291274 例新生儿，筛查率由 20.39%提高至近 100%。20 年间，有 57217 例（4.43%）初筛阳性患儿。其中，49779 例（87%）患儿召回进行确诊性检测。在召回的患儿中，有 39261 例（87.87%）确诊为 G6PD 缺乏症。该地区 G6PD 缺乏症的估计发生率为 3.49%，明显高于中国南方地区的平均发生率 2.1%。另一方面，在 99 例确诊患儿中分析出 7 种致病性 G6PD 变异，最常见的是 c.1388 G> A（48.5%），其次是 c.95 A> G（19.2%）、c.1376 G> T（15.2%）、c.871 G> A（9.1%）、c.1360 C> T（3.0%）、c.392 G> T（3.0%）和 c.487 G> A（1.0%）。
惠州市新生儿 G6PD 缺乏症的发生率高于中国南方地区的平均水平，而基因突变的类型和频率与其他地区略有不同。我们的研究结果表明，免费的政府筛查和附近的诊断策略可以降低该地区 G6PD 缺乏症的发生率。
