Retrospective analysis of a ten-year screening project for G6PD deficiency in neonates in Hainan Province
10.3760/cma.j.issn.1009-9158.2020.02.013
- VernacularTitle: 海南省新生儿G6PD缺乏症筛查十年回顾分析
- Author:
Zhendong ZHAO
1
;
Xiulian LIU
;
Qianru DOU
;
Xi YANG
;
Jie WANG
Author Information
1. Neonate Screening Center, Hainan Maternal and Child Health Hospital, Haikou 570206, China
- Publication Type:Journal Article
- Keywords:
Glucosephosphate dehydrogenase deficiency;
Incidence;
Retrospective studies;
Neonatal screening
- From:
Chinese Journal of Laboratory Medicine
2020;43(2):171-174
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the prevalence of glucose-6-posphate dehydrogenase (G6PD) deficiency and its gene mutations among neonates in Hainan Province.
Methods:The G6PD activity of dried blood spots of 914 520 neonates born from 2007 to 2016 was screened by fluorescence spot test in Hainan Province. The G6PD/6-glucose phosphate dehydrogenase (6GPD) ratio method was used to confirm the diagnosis of suspected specimens, and 3 012 of year 2016 dried blood spots of neonates with G6PD deficiency were genotyped using the multicolor probe-based fluorescence melting curve analysis.
Results:From 2007 to 2016, 36 314 positive cases were screened in 914 520 neonates. A total of 26 370 cases of G6PD deficiency were diagnosed with an incidence rate of 2.88%(26 370/914 520) in Hainan Province. The incidences of G6PD deficiency were 2.80%(21 688/774 555) in ethnic Han population, 3.45% (4 292/124 419) in ethnic Li population, 3.31%(212/6 401) in ethnic Miao population and 1.95%(178/9 145) in other ethnic groups. There were significant differences in the incidence of G6PD deficiency in ethnic Han population and ethnic Li population(χ2=161.261, P=0.000), ethnic Miao population(χ2=6.104, P=0.013) and other ethnic groups(χ2=24.283, P=0.000). A total of 13 mutation types were detected by gene detection in 3 012 confirmed cases of G6PD deficiency, of which c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T mutations and related combinations accounted for approximately 91.74%. Two mutations outside 16 genotypes, c.86 C>T and c.1311 C>T, were found by gene sequencing.
Conclusions:The incidence of G6PD deficiency among newborns in Hainan Province is high, and there are ethnic and regional differences. The dominant genetic mutations in Hainan Province are c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T.
