Open AccessHemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
Author(s) -
Xu Ziheng,
Masters Ian Brent,
Barbaro Pasquale,
Miller Stephen,
Kapur Nitin
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6111
Subject(s) - medicine , hemoglobinopathy , hemoglobin , oxygen , pulse oximetry , oxygen delivery , anesthesia , pediatrics , hemolytic anemia , chemistry , organic chemistry
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.