A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports

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 des...

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Detalles Bibliográficos
Autores principales: Rua, Inês B, Vala, Beatriz, Gameiro, Inês, Martins, João R, Castelo, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439765/
https://www.ncbi.nlm.nih.gov/pubmed/37602010
http://dx.doi.org/10.7759/cureus.42182
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author Rua, Inês B
Vala, Beatriz
Gameiro, Inês
Martins, João R
Castelo, Rui
author_facet Rua, Inês B
Vala, Beatriz
Gameiro, Inês
Martins, João R
Castelo, Rui
author_sort Rua, Inês B
collection PubMed
description 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.
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spelling pubmed-104397652023-08-20 A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports Rua, Inês B Vala, Beatriz Gameiro, Inês Martins, João R Castelo, Rui Cureus Pediatrics 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. Cureus 2023-07-20 /pmc/articles/PMC10439765/ /pubmed/37602010 http://dx.doi.org/10.7759/cureus.42182 Text en Copyright © 2023, Rua et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Rua, Inês B
Vala, Beatriz
Gameiro, Inês
Martins, João R
Castelo, Rui
A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports
title A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports
title_full A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports
title_fullStr A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports
title_full_unstemmed A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports
title_short A Hemoglobin Variant Causing an Unexplained Low Oxygen Saturation by Pulse Oximetry: Two Case Reports
title_sort hemoglobin variant causing an unexplained low oxygen saturation by pulse oximetry: two case reports
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439765/
https://www.ncbi.nlm.nih.gov/pubmed/37602010
http://dx.doi.org/10.7759/cureus.42182
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