A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation

Introduction: Pulse oximetry is a widely used non-invasive method to measure arterial oxygen saturation (SpO2). However, haemoglobinopathies, including rare low-oxygen-affinity variants such as haemoglobin (Hb) Lansing can result in falsely low SpO2 readings due to alterations in the Hb oxygen disso...

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Main Authors: Razi Even-dar, Reem Mhamid, Karwan Badarni, Evelyne Shabad, Yaron Bar-lavie, Yaniv Dotan
Format: Article
Language:English
Published: SMC MEDIA SRL 2025-04-01
Series:European Journal of Case Reports in Internal Medicine
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Online Access:https://www.ejcrim.com/index.php/EJCRIM/article/view/5069
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author Razi Even-dar
Reem Mhamid
Karwan Badarni
Evelyne Shabad
Yaron Bar-lavie
Yaniv Dotan
author_facet Razi Even-dar
Reem Mhamid
Karwan Badarni
Evelyne Shabad
Yaron Bar-lavie
Yaniv Dotan
author_sort Razi Even-dar
collection DOAJ
description Introduction: Pulse oximetry is a widely used non-invasive method to measure arterial oxygen saturation (SpO2). However, haemoglobinopathies, including rare low-oxygen-affinity variants such as haemoglobin (Hb) Lansing can result in falsely low SpO2 readings due to alterations in the Hb oxygen dissociation curve and spectral properties. Recognising these conditions is crucial to avoid misdiagnosis and unnecessary interventions. Case description: A 50-year-old female with a history of chronic obstructive pulmonary disease (COPD), hypertension and compensated cirrhosis presented for pre-operative evaluation. Persistent hypoxia (SpO2 84%), unresponsive to oxygen supplementation, was noted during routine assessment. Diagnostic investigations excluded pulmonary or cardiac shunts, hepatopulmonary syndrome and common causes of methaemoglobinaemia or carboxyhaemoglobinemia. Arterial blood gas analysis using a CO-oximeter revealed a true oxygen saturation of 90%, highlighting a discrepancy with pulse oximetry. Hb electrophoresis demonstrated an abnormal haemoglobin fraction, and subsequent genetic testing identified a heterozygous mutation (HBA1: c.264C>G), confirming Hb Lansing. The patient was asymptomatic apart from mild exertional dyspnoea attributed to underlying COPD and safely underwent planned surgery. Discussion: Hb Lansing is a rare haemoglobinopathy characterised by low oxygen affinity and high p50, leading to falsely low SpO2 readings and minimal response to supplemental oxygen. Diagnosis relies on CO-oximetry, Hb electrophoresis and genetic analysis. No specific treatment is required for low-affinity haemoglobinopathies, which generally have a benign clinical course. Conclusion: Haemoglobinopathies should be considered in the differential diagnosis of unexplained hypoxia. Utilisation of targeted diagnostic tools enables clinicians to ensure accurate diagnosis and appropriate management.
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spelling doaj-art-762c0d32c4744340830edb0b6b85dc0f2025-08-20T02:11:34ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942025-04-0110.12890/2025_0050694604A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementationRazi Even-dar0Reem Mhamid1Karwan Badarni2Evelyne Shabad3Yaron Bar-lavie4Yaniv Dotan5Pulmonology Unit, Rambam Health Care Campus, Haifa, IsraelPulmonology Unit, Rambam Health Care Campus, Haifa, IsraelGeneral Intensive Care Unit, Rambam Health Care Campus, Haifa, IsraelHemoglobinopathy Clinic, Rambam Health Care Campus, Haifa, IsraelGeneral Intensive Care Unit, Rambam Health Care Campus, Haifa, Israel; Technion – Israel Institute of Technology, Haifa, IsraelPulmonology Unit, Rambam Health Care Campus, Haifa, Israel; Technion – Israel Institute of Technology, Haifa, IsraelIntroduction: Pulse oximetry is a widely used non-invasive method to measure arterial oxygen saturation (SpO2). However, haemoglobinopathies, including rare low-oxygen-affinity variants such as haemoglobin (Hb) Lansing can result in falsely low SpO2 readings due to alterations in the Hb oxygen dissociation curve and spectral properties. Recognising these conditions is crucial to avoid misdiagnosis and unnecessary interventions. Case description: A 50-year-old female with a history of chronic obstructive pulmonary disease (COPD), hypertension and compensated cirrhosis presented for pre-operative evaluation. Persistent hypoxia (SpO2 84%), unresponsive to oxygen supplementation, was noted during routine assessment. Diagnostic investigations excluded pulmonary or cardiac shunts, hepatopulmonary syndrome and common causes of methaemoglobinaemia or carboxyhaemoglobinemia. Arterial blood gas analysis using a CO-oximeter revealed a true oxygen saturation of 90%, highlighting a discrepancy with pulse oximetry. Hb electrophoresis demonstrated an abnormal haemoglobin fraction, and subsequent genetic testing identified a heterozygous mutation (HBA1: c.264C>G), confirming Hb Lansing. The patient was asymptomatic apart from mild exertional dyspnoea attributed to underlying COPD and safely underwent planned surgery. Discussion: Hb Lansing is a rare haemoglobinopathy characterised by low oxygen affinity and high p50, leading to falsely low SpO2 readings and minimal response to supplemental oxygen. Diagnosis relies on CO-oximetry, Hb electrophoresis and genetic analysis. No specific treatment is required for low-affinity haemoglobinopathies, which generally have a benign clinical course. Conclusion: Haemoglobinopathies should be considered in the differential diagnosis of unexplained hypoxia. Utilisation of targeted diagnostic tools enables clinicians to ensure accurate diagnosis and appropriate management.https://www.ejcrim.com/index.php/EJCRIM/article/view/5069hypoxiahaemoglobinopathyco-oximetrydissociation curveblood gases
spellingShingle Razi Even-dar
Reem Mhamid
Karwan Badarni
Evelyne Shabad
Yaron Bar-lavie
Yaniv Dotan
A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation
European Journal of Case Reports in Internal Medicine
hypoxia
haemoglobinopathy
co-oximetry
dissociation curve
blood gases
title A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation
title_full A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation
title_fullStr A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation
title_full_unstemmed A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation
title_short A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation
title_sort 50 year old woman with severe resting hypoxia not amendable to high flow oxygen supplementation
topic hypoxia
haemoglobinopathy
co-oximetry
dissociation curve
blood gases
url https://www.ejcrim.com/index.php/EJCRIM/article/view/5069
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