Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports

doi:10.12998/wjcc.v10.i20.6999

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World Journal of Clinical Cases

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Case Report

World J Clin Cases. Jul 16, 2022; 10(20): 6999-7005
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.6999

Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports

Fen Lin, Jian-Xin Xu, Yong-Hao Wu, Yu-Bin Ma, Li-Ye Yang

Fen Lin, Jian-Xin Xu, Yong-Hao Wu, Precision Medical Center, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521021, Guangdong Province, China

Fen Lin, Department of Biochemistry, Shantou University Medical College, Shantou 515000, Guangdong Province, China

Yu-Bin Ma, Department of Pediatrics, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, Guangdong Province, China

Li-Ye Yang, Precision Medical Lab Center, People’s Hospital of Yangjiang Affiliated to Guangdong Medical University, Yangjiang 529500, Guangdong Province, China

Author contributions: Yang LY conceived the study and revised the manuscript; Lin F performed all experiments and wrote the manuscript; Xu JX collected the blood samples and biochemical analyses of the patients; Wu YH collected the clinical data, and Ma YB performed the treatments; All authors read and approved the final manuscript.

Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.

Conflict-of-interest statement: The authors declare that they have no conflicts of interest.

CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).

Corresponding author: Li-Ye Yang, MD, Professor, Precision Medical Lab Center, People’s Hospital of Yangjiang Affiliated to Guangdong Medical University, No. 42 Dongshan Road, Jiangcheng District, Yangjiang 529500, Guangdong Province, China. yangleeyee@sina.com

Received: November 1, 2021
Peer-review started: November 1, 2021
First decision: March 23, 2022
Revised: April 6, 2022
Accepted: May 22, 2022
Article in press: May 22, 2022
Published online: July 16, 2022
Processing time: 245 Days and 17.1 Hours

Abstract

BACKGROUND

Neonatal hyperbilirubinemia is a common problem faced by pediatricians. The role of genetic factors in neonatal jaundice has been gradually recognized. This study aims to identify genetic variants that influence the bilirubin level in five patients using next-generation sequencing (NGS).

CASE SUMMARY

Five neonates with severe hyperbilirubinemia were retrospectively studied. They exhibited bilirubin encephalopathy, hypothyroidism, ABO blood type incompatibility hemolysis, glucose-6-phosphate dehydrogenase (G6PD) deficiency and premature birth, respectively. A customized 22-gene panel was designed, and NGS was carried out for these neonates. Eight variations (G6PD c.G1388A, HBA2 c.C369G, ABCC2 c.C3825G, UGT1A1 c.G211A, SPTB c.A1729G, EPB41 c.G520A, c.1213-4T>G and c.A1474G) were identified in these five neonates. Genetic mutations of these genes are associated with G6PD deficiency, thalassemia, Dubin-Johnson syndrome, Gilbert syndrome, hereditary spherocytosis, and hereditary elliptocytosis. One of the neonates was found to have compound variants of the EPB41 splice site c.1213-4T>G and c.G520A (p.E174K), but no elliptocyte was seen on his blood smear of 4 years old.

CONCLUSION

Pathological factors of severe neonatal hyperbilirubinemia are complicated. Genetic variants may play an important role in an increased risk of neonatal hyperbilirubinemia, and severe jaundice in neonates may be related to a cumulative effect of genetic variants.

Keywords: Neonatal hyperbilirubinemia; Gene variation; Next generation sequencing; Clinical feature; Case report

Core Tip: This study has emphasized that for severe hyperbilirubinemia neonates, apart from the predominant glucose-6-phosphate dehydrogenase deficiency and ABO hemolysis, other underlying genetic factors such as thalassemia or red blood cell membrane disorders should be considered, and genetic detection may be taken into consideration for early diagnosis of severe hyperbilirubinemia in neonates.