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Title: | Hemoglobin I-Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations | Authors: | Barbaro, P. Kapur, N. Miller, S. Xu, Z. Masters, I. B. |
Issue Date: | 2022 | Source: | Jul 10, (7), 2022, p. e6111 | Pages: | e6111 | Journal: | Clin Case Rep | Abstract: | 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.2050-0904Xu, Ziheng | DOI: | 10.1002/ccr3.6111 | Keywords: | geneticshematology;respiratory medicine;pediatrics and adolescent medicine | Type: | Article |
Appears in Sites: | Children's Health Queensland Publications |
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