Analysis of Neonatal Hyperbilirubinemia Caused by Variations in the G6PD Gene Sequence at RSIA Qurrata A'yun Samarinda

DOI

10.2991/978-94-6463-132-6_39How to use a DOI?

Keywords

Neonatal; G6PD; Hyperbilirubinemia,; Mutation

Abstract

Hyperbilirubinemia is a common problem in newborns that is characterized by jaundice caused by high levels of bilirubin in the blood. One of the causes of hyperbilirubinemia is a deficiency in the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is the most common metabolic disorder affecting over 400 million people worldwide. The goal of this study was to look at the G6PD gene variation in neonatal hyperbilirubinemia at the Qurrata A’yun Women’s and Children’s Hospital in Samarinda. This study employed an observational cross-sectional design. G6PD gene samples were obtained from 1–3 day old hyperbilirubin neonatal samples of 27 RSIA Qurrata A’yun Samarinda patients with bilirubin levels (> 10 mg/dl). Blood samples were examined using the G6PD humasis rapid test, which was obtained from 16 patients with G6PD deficiency and 11 normal patients. The G6PD gene amplification results were obtained in the 700 bp band, and the DNA coding for the G6PD gene was sequenced. G6PD gene mutation carriers were identified in 16 hyperbilirubinized neonatal samples. The most common gene mutation variants found in neonatal hyperbilirubin patients are Asahikawa (T 695 C), which causes amino acid changes (Leucine 232 Proline). In this study, 5 samples were obtained that indicated Sickle-Cell Anemia, demonstrating that hyperbilirubinized patients are inextricably linked to the anemia factor. This study found gene variants in the form of deletions, silent mutations, substitutions, and missense mutations, according to Asahikawa (T 695 C). In addition, one new mutation has been discovered, which was a change in the amino acid (Threonine 234 Glycine) or (C 701 G).

Copyright

© 2023 The Author(s)

Open Access

Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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TY  - CONF
AU  - Prince Saputra
AU  - Aminah Rohimah
AU  - Sri Darmawati
AU  - Mudyawati Kamaruddin
PY  - 2023
DA  - 2023/04/19
TI  - Analysis of Neonatal Hyperbilirubinemia Caused by Variations in the G6PD Gene Sequence at RSIA Qurrata A'yun Samarinda
BT  - Proceedings of the 1st Lawang Sewu International Symposium 2022 on Health Sciences (LSISHS 2022)
PB  - Atlantis Press
SP  - 341
EP  - 351
SN  - 2468-5739
UR  - https://doi.org/10.2991/978-94-6463-132-6_39
DO  - 10.2991/978-94-6463-132-6_39
ID  - Saputra2023
ER  -