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Haemoglobin I -Toulouse: A rare haemoglobinopathy presenting with low oxygen saturations

Year: 2021

Type: preprint

Abstract: We report a child with persistently low SpO2 with delayed diagnosis due to the co-existing CPAM with possible AVM. The diagnosis was only achieved after low SpO2 incidentally discovered from the child's father. The eventual cause was Haemoglobin I-Toulouse, making both patients the first reported cases with low SpO2.

DOI: 10.22541/au.163253192.28494385/v1

Authors: Ziheng Xu, Ian Masters, Nitin Kapur, Pasquale Barbaro, Stephen Miller

Institutions: Children's Health Queensland Hospital and Health Service, Royal Brisbane and Women's Hospital

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

OpenAlex ID: W4235030918

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Related to: 10