Oxygen Saturation in Pulse Oximetry in Hemoglobin Anomalies

Abstract

Background:

Pulse oximetry is an essential diagnostic method in pediatric emergency medicine and pediatric intensive care. However, if undetected hemoglobin anomalies are the underlying cause measurements of low oxygen saturation can be interpreted incorrectly or may lead to unnecessary examinations. In 2 recently discovered hemoglobin anomalies, Hb Bonn and Hb Venusberg, this resulted in extensive and repeat cardiopulmonary examinations. This review aims to provide an overview of hemoglobin anomalies causing low oxygen saturation.

Methods:

We describe the methods required for differential diagnosis of hemoglobin anomalies, such as hemoglobin electrophoresis, High Performance Liquid Chromatography, hemoglobin gene sequencing and spectral photometry, and the difficulties with the interpretation of results. Furthermore, with a review of the literature we provide an extensive overview of hemoglobin anomalies which result in low oxygen saturation measurement in pulse oximetry. With the examples of Hb Bonn, a novel hemoglobin mutation of the proximal α1-globin, which results in false low pulse oximetry measurements of oxygen saturation, and Hb Venusberg, a low oxygen-affine hemoglobin mutation of the β-globin, we highlight the difficulties arising from the respective case histories.

Conclusion:

In pediatric medicine, hemoglobin anomalies must be included in the diagnosis as a possible underlying cause of low oxygen saturation in case of ambiguous or conflicting pulse oximetry findings.

Zusammenfassung

Hintergrund:

Die Pulsoximetrie ist ein essenzielles diagnostisches Verfahren in der pädiatrischen Notfall- und Intensivmedizin. Niedrige Sauerstoffsättigungen in der Pulsoximetrie können bei verschiedenen Hämoglobinanomalien aber auch falsch interpretiert werden oder zu unnötigen Untersuchungen führen. Bei den kürzlich entdeckten Hämoglobinanomalien, Hb Bonn und Hb Venusberg, führte dies zu aufwendigen und wiederholten kardiopulmologischen Untersuchungen, was uns dazu veranlasste, eine Übersicht über Hämoglobinanomalien, die niedrige Sauerstoffsättigungen in der Pulsoximetrie verursachen, zu verfassen.

Methoden:

Diese Übersicht beschreibt zum einen die Methoden, die für eine konsequente Diagnostik von Hämoglobinanomalien notwendig sind, wie Hämoglobin-Elektrophorese, High Performance Liquid Chromatography, Hämoglobin-Gen-Sequenzierung und Spektralphotometrie, und stellt die Probleme der Interpretation dar. Zum anderen wurde Literaturrecherche herangezogen, um einen möglichst großen Überblick über Hämoglobinanomalien, die in der Puls­oximetrie zu niedrigen Sättigungen führen, zu verschaffen. Anhand von Hb Bonn, eine neue Hämoglobinmutation des proximalen α1-Globins, das pulsoximetrisch zu falsch niedrig gemesse­ner Sauerstoffsättigung führt, und Hb Venusberg, eine niedrig sauerstoffaffine Hämoglobinmutation des β-Globins, wird beispielhaft aufgezeigt, welche Schwierigkeiten sich aus der Krankengeschichte ergeben.

Schlussfolgerung:

In der Pädiatrie sollten Hämoglobinanomalien als Ursachen niedriger Sauerstoffsättigungen in differenztialdiagnostische Überlegungen miteinbezogen werden, wenn es zu unklaren oder widersprüchlichen Befunden bei der Pulsoximetrie kommt.

Key words

pulse oximetry - hemoglobin anomalies - hemoglobin Bonn - hemoglobin Venusberg

Schlüsselwörter

Pulsoximetrie - Hämoglobinanomalien - Hämoglobin Bonn - Hämoglobin Venusberg

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