A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports.
hematology
hemoglobinopathies
neonatology
oxygen saturation
pulse oximetry
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
accepted:
20
07
2023
medline:
21
8
2023
pubmed:
21
8
2023
entrez:
21
8
2023
Statut:
epublish
Résumé
Pulse oximetry is now routinely used in neonatal resuscitation and for neonatal screening for congenital heart diseases. Beyond respiratory and cardiac diseases, hemoglobin (Hb) variants must be included in the differential diagnosis of low oxygen saturation detected by pulse oximetry. We aim to describe two cases of fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c.202G>A (p.Val68Met)), which was identified in two unrelated newborns.
Identifiants
pubmed: 37602010
doi: 10.7759/cureus.42182
pmc: PMC10439765
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e42182Informations de copyright
Copyright © 2023, Rua et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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