title: Oxygen saturation in pulse oximetry in hemoglobin anomalies.
abstract: 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.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.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.
authors: Institut für Klinische Chemie und Klinische Pharmakologie, Universitätsklinik Bonn, Germany. berndt.zur@ukb.uni-bonn.de
authors: B
authors: B
authors: Zur
authors: S
authors: S
authors: Bagci
authors: M
authors: M
authors: Ludwig
authors: B
authors: B
authors: Stoffel-Wagner
mesh_terms: D000293:Adolescent; D000328:Adult; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003937:Diagnosis, Differential; D005189:False Positive Reactions; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006441:Hemoglobin A / Q000032:analysis; D006443:Hemoglobin A2 / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D000860:Hypoxia / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010092:Oximetry; D012016:Reference Values
chemical_list: D006455:Hemoglobins, Abnormal; D006441:Hemoglobin A; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin