Cited by 14Neonatal Health and BiochemistryPediatric Hepatobiliary Diseases and TreatmentsMetabolism and Genetic Disorders

Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border

Open access
Bancone, Germana, Gornsawun, Gornpan, Peerawaranun, Pimnara, Penpitchaporn, Penporn, Paw, Moo Kho, Poe, Day Day, Win, December, Cicelia, Naw +7 more·2022·PLOS Global Public Health

Abstract

Very high unconjugated bilirubin plasma concentrations in neonates (neonatal hyperbilirubinaemia; NH) may cause neurologic damage (kernicterus). Both increased red blood cell turn-over and immaturity of hepatic glucuronidation contribute to neonatal hyperbilirubinaemia. The incidence of NH requiring phototherapy during the first week of life on the Thailand-Myanmar border is high (approximately 25%). On the Thailand-Myanmar border we investigated the contribution of genetic risk factors to high bilirubin levels in the first month of life in 1596 neonates enrolled in a prospective observational birth cohort study. Lower gestational age (<38 weeks), mutations in the genes encoding glucose-6-phosphate dehydrogenase (G6PD) and uridine 5′-diphospho-glucuronosyltransferase (UGT) 1A1 were identified as the main independent risk factors for NH in the first week, and for prolonged jaundice in the first month of life. Population attributable risks (PAR%) were 61.7% for lower gestational age, 22.9% for hemi or homozygous and 9.9% for heterozygous G6PD deficiency respectively, and 6.3% for UGT1A1*6 homozygosity. In neonates with an estimated gestational age ≥ 38 weeks, G6PD mutations contributed PARs of 38.1% and 23.6% for “early” (≤ 48 hours) and “late” (49–168 hours) NH respectively. For late NH, the PAR for UGT1A1*6 homozygosity was 7.7%. Maternal excess weight was also a significant risk factor for “early” NH while maternal mutations on the beta-globin gene, prolonged rupture of membranes, large haematomas and neonatal sepsis were risk factors for “late” NH. For prolonged jaundice during the first month of life, G6PD mutations and UGT1A1*6 mutation, together with lower gestational age at birth and presence of haematoma were significant risk factors. In this population, genetic factors contribute considerably to the high risk of NH. Diagnostic tools to identify G6PD deficiency at birth would facilitate early recognition of high risk cases.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1371/journal.pgph.0000475

Cites

50 of 50 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

1 of the 51 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Authors
Bancone, G., Gornsawun, G., Peerawaranun, P., Penpitchaporn, P., Paw, M. K., Poe, D. D., Win, D., Cicelia, N., Mukaka, M., Archasuksan, L., Thielemans, L., Nosten, F., White, N. J., McGready, R., & Carrara, V. I.
Affiliations
  • Mahidol University (TH)
  • Université Libre de Bruxelles (BE)
  • University of Geneva (CH)
Corresponding author
Bancone, Germana
Venue
PLOS Global Public Health
Published
2022-06-17
Volume
2
Issue
6
Pages
e0000475
ISSN
2767-3375 (ISSN-L)
OpenAlex
W4283030835
Cited by
14
References
51
Citations by year
2026: 2 · 2025: 4 · 2024: 5 · 2023: 1 · 2022: 2
FWCI
3.29
Type
journal article
Language
en
Open access
Locations
  • PLOS Global Public Health (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • Archive ouverte UNIGE (University of Geneva) (submittedVersion, other-oa)
  • Greater South Information System
Funders
  • Wellcome Trust (106698)
  • The Belgian Kids Fund for Pediatric Research
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
  • Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
neonatal hyperbilirubinaemia, kernicterus, glucose-6-phosphate dehydrogenase deficiency, UGT1A1 mutations, glucose-6-phosphate dehydrogenase, UGT1A1, gestational age, prolonged jaundice, population attributable risk, genetic risk factors, hematoma, Thai-Myanmar border

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review