Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations

We report a child with persistently low oxygen saturations (SpO(2) 90%–92%) [normal SpO(2) > 98%], with delayed diagnosis due to the co‐existing congenital pulmonary airway malformation with possible arterio‐venous malformation. The diagnosis was only achieved after low oxygen saturations inciden...

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Autores principales: Xu, Ziheng, Masters, Ian Brent, Barbaro, Pasquale, Miller, Stephen, Kapur, Nitin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309734/
https://www.ncbi.nlm.nih.gov/pubmed/35898763
http://dx.doi.org/10.1002/ccr3.6111
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author Xu, Ziheng
Masters, Ian Brent
Barbaro, Pasquale
Miller, Stephen
Kapur, Nitin
author_facet Xu, Ziheng
Masters, Ian Brent
Barbaro, Pasquale
Miller, Stephen
Kapur, Nitin
author_sort Xu, Ziheng
collection PubMed
description We report a child with persistently low oxygen saturations (SpO(2) 90%–92%) [normal SpO(2) > 98%], with delayed diagnosis due to the co‐existing congenital pulmonary airway malformation with possible arterio‐venous malformation. The diagnosis was only achieved after low oxygen saturations incidentally discovered from the child's father. The eventual cause was Hemoglobin I‐Toulouse, making both patients the first reported cases with low oxygen saturations.
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spelling pubmed-93097342022-07-26 Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations Xu, Ziheng Masters, Ian Brent Barbaro, Pasquale Miller, Stephen Kapur, Nitin Clin Case Rep Case Report We report a child with persistently low oxygen saturations (SpO(2) 90%–92%) [normal SpO(2) > 98%], with delayed diagnosis due to the co‐existing congenital pulmonary airway malformation with possible arterio‐venous malformation. The diagnosis was only achieved after low oxygen saturations incidentally discovered from the child's father. The eventual cause was Hemoglobin I‐Toulouse, making both patients the first reported cases with low oxygen saturations. John Wiley and Sons Inc. 2022-07-25 /pmc/articles/PMC9309734/ /pubmed/35898763 http://dx.doi.org/10.1002/ccr3.6111 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Report
Xu, Ziheng
Masters, Ian Brent
Barbaro, Pasquale
Miller, Stephen
Kapur, Nitin
Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
title Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
title_full Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
title_fullStr Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
title_full_unstemmed Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
title_short Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
title_sort hemoglobin i‐toulouse: a rare hemoglobinopathy presenting with low oxygen saturations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309734/
https://www.ncbi.nlm.nih.gov/pubmed/35898763
http://dx.doi.org/10.1002/ccr3.6111
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AT mastersianbrent hemoglobinitoulouseararehemoglobinopathypresentingwithlowoxygensaturations
AT barbaropasquale hemoglobinitoulouseararehemoglobinopathypresentingwithlowoxygensaturations
AT millerstephen hemoglobinitoulouseararehemoglobinopathypresentingwithlowoxygensaturations
AT kapurnitin hemoglobinitoulouseararehemoglobinopathypresentingwithlowoxygensaturations

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