Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar border Article Swipe
Germana Bancone
,
Gornpan Gornsawun
,
Pimnara Peerawaranun
,
Penporn Penpitchaporn
,
Moo Kho Paw
,
Day Day Poe
,
December Win
,
Naw Cicelia
,
Mavuto Mukaka
,
Laypaw Archasuksan
,
Laurence Thielemans
,
François Nosten
,
Nicholas J. White
,
Rose McGready
,
Verena I. Carrara
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pgph.0000475
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pgph.0000475
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.
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- article
- Language
- en
- Landing Page
- https://doi.org/10.1371/journal.pgph.0000475
- https://journals.plos.org/globalpublichealth/article/file?id=10.1371/journal.pgph.0000475&type=printable
- OA Status
- gold
- Cited By
- 13
- References
- 51
- Related Works
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- OpenAlex ID
- https://openalex.org/W4283030835
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- OpenAlex ID
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https://openalex.org/W4283030835Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1371/journal.pgph.0000475Digital Object Identifier
- Title
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Contribution of genetic factors to high rates of neonatal hyperbilirubinaemia on the Thailand-Myanmar borderWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
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2022-06-17Full publication date if available
- Authors
-
Germana Bancone, Gornpan Gornsawun, Pimnara Peerawaranun, Penporn Penpitchaporn, Moo Kho Paw, Day Day Poe, December Win, Naw Cicelia, Mavuto Mukaka, Laypaw Archasuksan, Laurence Thielemans, François Nosten, Nicholas J. White, Rose McGready, Verena I. CarraraList of authors in order
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https://doi.org/10.1371/journal.pgph.0000475Publisher landing page
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https://journals.plos.org/globalpublichealth/article/file?id=10.1371/journal.pgph.0000475&type=printableDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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https://journals.plos.org/globalpublichealth/article/file?id=10.1371/journal.pgph.0000475&type=printableDirect OA link when available
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Geography, Socioeconomics, EconomicsTop concepts (fields/topics) attached by OpenAlex
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13Total citation count in OpenAlex
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2025: 5, 2024: 5, 2023: 1, 2022: 2Per-year citation counts (last 5 years)
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51Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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