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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Detalles Bibliográficos
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
Descripción
Sumario: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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