Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2443
Peer-review started: November 23, 2022
First decision: February 2, 2023
Revised: February 9, 2023
Accepted: March 15, 2023
Article in press: March 15, 2023
Published online: April 16, 2023
Processing time: 134 Days and 2.3 Hours
Neonatal hyperbilirubinemia is one of the common diseases of newborns, the pathogenic factors of neonatal hyperbilirubinemia in eastern Guangdong is not clear.
To understand the etiology for severe neonatal hyperbilirubinemia in Chaozhou.
To analyze the pathological factors contributing to severe hyperbilirubinemia in neonates.
The clinical data were retrospectively collected and genetic variants of glucose-6-phosphate dehydrogenase (G6PD) and UGT1A1 were determined by polymerase chain reaction and sequencing.
Among the causes of severe hyperbilirubinemia, neonatal hemolysis accounted for 15.17%, breast milk jaundice accounted for 12.09%, infection accounted for 10.17%, G6PD deficiency accounted for 9.14%, and the coexistence of multiple etiologies accounted for 6.55%, unknown etiology accounted for 41.72%. ABO hemolysis and G6PD deficiency were the most common causes in the 20 cases with bilirubin encephalopathy. 94 severe hyperbilirubinemia newborns were tested for UGT1A1*6 variant (rs4148323, c.211G>A, p.Arg71Gly), 9 cases were 211 G to A homozygous variant, 37 cases were 211 G to A heterozygous variant, and 48 cases were wild genotypes.
The main causes for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns, G6PD deficiency and infection. UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia.
Multiple genetic variants may regulate the bilirubin levels in neonate, these gene analysis may contribute to the prognosis and management for neonatal jaundice.