Etiology analysis for term newborns with severe hyperbilirubinemia in eastern Guangdong of China

Abstract

BACKGROUND Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin, resulting in sequelaes such as hearing loss, motor and intellectual development disorders, and even death. The pathogenic factors of neonatal hyperbilirubinemia are complex. Different cases of hyperbilirubinemia may have a single or mixed etiology. AIM To explore the etiological characteristics of severe hyperbilirubinemia in term newborns of eastern Guangdong of China. METHODS Term newborns with severe hyperbilirubinemia in one hospital from January 2012 to December 2021 were retrospectively analyzed. The etiology was determined according to the laboratory results and clinical manifestations. RESULTS Among 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China, 32.20% (580/1602) was severe hyperbilirubinemia. Among the causes of severe hyperbilirubinemia, neonatal hemolysis accounted for 15.17%, breast milk jaundice accounted for 12.09%, infection accounted for 10.17%, glucose-6-phosphate dehydrogenase (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 uridine diphosphate glucuronosyl transferase 1A1 (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. CONCLUSION The main cause 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. Targeted prevention and treatment according to the etiology may reduce the occurrence of bilirubin encephalopathy and kernicterus.

Prevalence and association of early onset severe hyperbilirubinemia in newborn in the East China region: Retrospective medical record analyses

“…Newborns with a serum bilirubin level < 342 μmol/L within 6 hours of birth were considered to have non-severe hyperbilirubinemia. [3] 2.6. ABO incompatibility "O" blood type for the mother and either "A," or "AB," or "B" blood type for the newborn was considered as ABO incompatibility.…”

“…[2] Hyperbilirubinemia mainly results in an imbalance between the production and elimination of bilirubin in newborns. [3] The detection and association of hyperbilirubinemia is important for the early treatment of hyperbilirubinemia in newborns because hyperbilirubinemia causes autism, jaundice, encephalopathy, life-long disabilities, or death of newborns. [4] The research on the prevalence and association of hyperbilirubinemia is controversial; for example, the prevalence of severe hyperbilirubinemia in eastern Guangdong, China is 32%, and neonatal hemolysis and infection are the main predictors of severe hyperbilirubinemia in eastern Guangdong, China.…”

“…[4] The research on the prevalence and association of hyperbilirubinemia is controversial; for example, the prevalence of severe hyperbilirubinemia in eastern Guangdong, China is 32%, and neonatal hemolysis and infection are the main predictors of severe hyperbilirubinemia in eastern Guangdong, China. [3] However, mutations in the G211 gene, ABO incompatibility, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are the main predictors of severe hyperbilirubinemia in Fujian, Southeastern China. [5] G6PD and UGT1A1 deficiencies are the main predictors of severe hyperbilirubinemia in Shanghai, China.…”

“…[6] The etiology of hyperbilirubinemia is affected by the environment and other factors in newborns. [3] The contradictory results among Chinese newborns are due to different cultures and demographic and clinical conditions. [4] The etiology of hyperbilirubinemia is complex.…”

“…[4] The etiology of hyperbilirubinemia is complex. [3] The World Health Organization recommends a 1-day hospital stay after uncomplicated delivery, jaundice assessment before discharge, and screening at 3 rd day and 7 th day after birth for hyperbilirubinemia. [7] However, the implementation of these guidelines is difficult in Chinese institutes because of comparatively fewer facilities and the health care burden on families.…”