To investigate prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and characteristics of G6PD gene mutations of neonates of Miao Nationality in Hainan Province.

A total of 3 248 neonates of Miao Nationality who received G6PD deficiency screening in Hainan Province from January 2017 to December 2019 were selected as research objects. G6PD activity quantity analysis of dried heel blood spots samples of them were measured by fluorescence immunoassay method for G6PD deficiency screening. For positive samples of G6PD deficiency whose G6PD activity<26 U/dL, polymerase chain reaction (PCR) with flow-through hybridization method was used to analyze G6PD gene mutation sites and types (homozygous or heterozygous mutation). This study was approved by Ethical Review Board of Hainan Maternal and Child Health Hospital (now renamed as Hainan Women and Children′s Medical Center) [Approval No. (2018)35]. All neonatal guardians signed the informed consents.

① Among 3 248 neonates of Miao Nationality, the screening positive rate of G6PD deficiency was 7.1%(232/ 3 248); among 232 neonates who received genetic testing, prevalence of G6PD deficiency was 86.2%(200/232). There were no significant differences in screening positive rate and prevalence of G6PD deficiency between male and female neonates (P>0.05 for both). ②G6PD gene detection results of 232 neonates with G6PD deficiency screening positive showed that 200 neonates had G6PD gene mutation, including 12 mutation types with 209 mutation sites, they were c. 1376G>T (accounted for 62.7%), c. 1388G>A (accounted for 21.1%), c. 95A>G, c. 1311C>T, c. 871G>A, c. 1024G>T, c. 392G>T, c. 1360C>T, c. 517T>C, c. 592C>T, c. 487G>A and c. 383T>C, respectively.

Miao Nationality population-based prevalence of G6PD deficiency is high in Hainan province, and their major mutations of G6PD gene are c. 1376G>T and c. 1388G>A.