Objective To explore the incidence and genetic mutation characteristics of glucose-6-phosphate dehydrogenase(G6PD)deficiency in neonates of Guiyang area.Methods A total of 89 715 neonates born in all delivery institutions in Guiyang from September 1,2020 to June 30,2022 and screened for G6PD deficiency were selected as research subjects.Dried blood spot of heel blood(DBS)were collected from all neonates,and fluorescence analysis method was used for the initial quantitative screening of G6PD activity.Neonates who were positive for initial screening of G6PD deficiency with G6PD≤27 U/dL were recalled to the Guiyang Neonatal Disease Screening Center.And 1-2 mL of fasting peripheral venous blood was collected from each of them,and G6PD/6-phosphogluconate dehydrogenase(6PGD)ratio method and multicolor melting curve analysis(MMCA)gene mutation detection were conducted to diagnose G6PD deficiency in neonates.This study was approved by the Ethics Committee of Guiyang Maternity and Child Health Care Hospital(Approval No.2021-56)and clinical research informed consents were obtained from the guardians of neonates.Results Among the 89 715 neonates,the positive of initial screening rate for G6PD deficiency was 1.40％(1 254/89 715),with males at 1.85％(888/47 983)and females at 0.88％(366/41 732).The positive rate of initial screening for G6PD deficiency of male was statistically higher than that of female,and the difference was statistically significant(X2=153.52,P＜0.001).Among the 1 254 newborns who were positive for initial screening of G6PD deficiency,the recall rate was 74.96％(940/1 254).Of those 940 recalled neonates,895 cases were diagnosed as G6PD deficiency,with a recall diagnosis rate of 95.21％(895/940),and the recall diagnosis rate of male was 98.10％(673/686),and the rate of female was 87.40％(222/254).For 940 recalled neonates,694 cases were diagnosed as G6PD deficiency by G6PD/6PGD ratio method,and the diagnosis rate of G6PD/6PGD ratio method was 73.83％(694/940).The diagnosis rate of male neonates by G6PD/6PGD ratio method was 82.51％(566/686),which was significantly higher than 50.39％(128/254)of female neonates,and the difference was statistically significant(X2=98.94,P＜0.001).And 846 cases were diagnosed as G6PD deficiency by MMCA gene mutation detection,and the diagnosis rate of MMCA gene mutation detection was 90.00％(846/940).The diagnosis rate for male neonates by MMCA gene mutation detection was 95.48％(655/686),which was significantly higher than 75.20％(191/254)for female neonates,and the difference was statistically significant(X2=84.74,P＜0.001).Among the 846 neonates diagnosed with G6PD deficiency by gene testing,there were 13 types of single G6PD gene mutations and 6 types of compound heterozygous mutations.The top four hotspot mutation types were c.1024C＞T(235 cases,27.78％),c.1388G＞A(205 cases,24.23％),c.95A＞G(163 cases,19.27％),and c.1376G＞T(152 cases,17.97％).Conclusions Among neonates in Guiyang who are positive for initial screening of G6PD deficiency,the recall rate for re-examination is relatively low.The top four hotspot G6PD gene mutations in neonates with G6PD deficiency in Guiyang are c.1024C＞T,c.1388G＞A,c.95A＞G,and c.1376G＞T.Conducting G6PD activity screening and related diagnostic tests is beneficial for the early diagnosis and treatment of G6PD deficiency in neonates.
NETL
NSTL
万方数据
