Hemoglobin Denver, a cause of desaturated pulse oximetry. A pediatric case report

Hemoglobinopathies are genetic disorders that affect the hemoglobin (Hb) molecule. Mutations in the alpha or beta chains altering the Hb tetramer may modify the molecule's oxygen-binding capacity. Hemoglobinopathies with low oxygen affinity may occur with cyanosis and an altered pulse oximetry...

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Veröffentlicht in:Archivos argentinos de pediatría 2023-10, Vol.121 (5), p.e202202801
Hauptverfasser: Rossetti, Estefanía, Eandi Eberle, Silvia, Aguirre, Fernando, Pepe, Carolina, Díaz, Lilian, Harris, Verónica, Ávalos, Vanesa
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Sprache:eng
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Zusammenfassung:Hemoglobinopathies are genetic disorders that affect the hemoglobin (Hb) molecule. Mutations in the alpha or beta chains altering the Hb tetramer may modify the molecule's oxygen-binding capacity. Hemoglobinopathies with low oxygen affinity may occur with cyanosis and an altered pulse oximetry reading, leading to unnecessary and sometimes invasive tests to rule out cardiovascular and respiratory conditions. In the case report described here, we present an asymptomatic pediatric patient who consulted for desaturated pulse oximetry. Her initial laboratory tests showed normocytic, normochromic anemia. Venous blood gas samples showed an elevated p50. After using extensive diagnostic tools, a variant of Hb with low oxygen affinity was diagnosed: Hb Denver.
ISSN:0325-0075
1668-3501
1668-3501
DOI:10.5546/aap.2022-02801.eng