SPURIOUSLY LOW PULSE OXIMETRY SATURATION ASSOCIATED WITH HEMOGLOBIN SYDNEY IN A CHILD AND RELATIVES: IDENTIFICATION OF THIS UNSTABLE HEMOGLOBIN MAY AVOID UNNECESSARY TESTING AND HOSPITAL ADMISSIONS
(Abstract release date: 05/21/15)
EHA Library. Rives Sola S. 06/12/15; 103024; PB2016
Disclosure(s): HOSPITAL SANT JOAN DE DÉU DE BARCELONAPediatric Hematology
Susana Rives Sola
Contributions
Contributions
Abstract
Abstract: PB2016
Type: Publication Only
Background
Pulse oximetry is a noninvasive method to measure hemoglobin oxygen saturation and is widely used in different medical settings. Very few variant hemoglobins have been associated with unexpectedly low SpO2. We describe a new family with the unstable hemoglobin Sydney associated to artifactually low SpO2, which, to our knowledge, has not been reported as a cause of this phenomenon. Identification of these rare hemoglobinopathies may avoid cardiac and pulmonary testing, unnecessary treatments and even hospital admissions.
Aims
To describe the association of Hemoglobin Sydney with artifactually low SpO2.
Methods
HPLC analysis with the VARIANT II equipment and CDM software (Bio-Rad) and acid and alcaline electrophoresis (HYDRASIS, SEBIA HISPANIA) were performed on the hemoglobin of the index case and his father. PCR amplification of the exons 1, 2, 3 and adjacent intronic regions was performed on the HBB gene (betha-hemoglobin gene) and sequence analysis of the amplified region.
Results
A 19-month-old male and his father had low pulse oxygen saturation measured by pulse oximetry (SpO2), which was not confirmed by arterial blood oxigen measurement (SaO2) in the child (index case). The child was referred by his primary care pediatrician to the Emergency ward because of bronchospasm that, in spite of salbutamol nebulizations and oxygen did not improve SpO2 (87%). He was admitted to the hospial ward and treated with salbutamol, corticosteroids and oxygen. A chest XR and cardiac ultrasound were performed which were normal. He had mild compensated hemolysis (hemoglobin 125g/L, VCM 94 fL, reticulocytes 4.5%, haptoglobin <40 mg/L. SaO2 was 96 % (FiO2 21%) when SpO2 was 85%. The patient’s father, grand-father and aunt had history of chronic hemolysis due to an unstable hemoglobin, not further characterized. The grand-father had a history of splenectomy. A hemoglobinopathy causing this falsely low SpO2 was suspected and confirmed. Both the patient and his father had anomalous hemoglobin peaks on HPLC that did not separate at all from HbA1 and DNA sequence analysis exhibited a mutation in heterozigosity in the HBB gene (Beta 87 (E11) Val>Ala) consistent with Sydney hemoglobin. The artifactuosly low SpO2 may be due to abnormal absorption peak measured by pulse oximeter.
Summary
Hemoglobin Sydney is a known unstable hemoglobin which can result in an artifactually low oxygen saturation measurement with pulse oximetry, previously not reported. To describe this association is important in order to avoid unnecessary tests in patients with this rare hemoglobinopathy.
Keyword(s): Hemoglobin variants, Hemoglobinopathy, Pediatric
Session topic: Publication Only
Type: Publication Only
Background
Pulse oximetry is a noninvasive method to measure hemoglobin oxygen saturation and is widely used in different medical settings. Very few variant hemoglobins have been associated with unexpectedly low SpO2. We describe a new family with the unstable hemoglobin Sydney associated to artifactually low SpO2, which, to our knowledge, has not been reported as a cause of this phenomenon. Identification of these rare hemoglobinopathies may avoid cardiac and pulmonary testing, unnecessary treatments and even hospital admissions.
Aims
To describe the association of Hemoglobin Sydney with artifactually low SpO2.
Methods
HPLC analysis with the VARIANT II equipment and CDM software (Bio-Rad) and acid and alcaline electrophoresis (HYDRASIS, SEBIA HISPANIA) were performed on the hemoglobin of the index case and his father. PCR amplification of the exons 1, 2, 3 and adjacent intronic regions was performed on the HBB gene (betha-hemoglobin gene) and sequence analysis of the amplified region.
Results
A 19-month-old male and his father had low pulse oxygen saturation measured by pulse oximetry (SpO2), which was not confirmed by arterial blood oxigen measurement (SaO2) in the child (index case). The child was referred by his primary care pediatrician to the Emergency ward because of bronchospasm that, in spite of salbutamol nebulizations and oxygen did not improve SpO2 (87%). He was admitted to the hospial ward and treated with salbutamol, corticosteroids and oxygen. A chest XR and cardiac ultrasound were performed which were normal. He had mild compensated hemolysis (hemoglobin 125g/L, VCM 94 fL, reticulocytes 4.5%, haptoglobin <40 mg/L. SaO2 was 96 % (FiO2 21%) when SpO2 was 85%. The patient’s father, grand-father and aunt had history of chronic hemolysis due to an unstable hemoglobin, not further characterized. The grand-father had a history of splenectomy. A hemoglobinopathy causing this falsely low SpO2 was suspected and confirmed. Both the patient and his father had anomalous hemoglobin peaks on HPLC that did not separate at all from HbA1 and DNA sequence analysis exhibited a mutation in heterozigosity in the HBB gene (Beta 87 (E11) Val>Ala) consistent with Sydney hemoglobin. The artifactuosly low SpO2 may be due to abnormal absorption peak measured by pulse oximeter.
Summary
Hemoglobin Sydney is a known unstable hemoglobin which can result in an artifactually low oxygen saturation measurement with pulse oximetry, previously not reported. To describe this association is important in order to avoid unnecessary tests in patients with this rare hemoglobinopathy.
Keyword(s): Hemoglobin variants, Hemoglobinopathy, Pediatric
Session topic: Publication Only
Abstract: PB2016
Type: Publication Only
Background
Pulse oximetry is a noninvasive method to measure hemoglobin oxygen saturation and is widely used in different medical settings. Very few variant hemoglobins have been associated with unexpectedly low SpO2. We describe a new family with the unstable hemoglobin Sydney associated to artifactually low SpO2, which, to our knowledge, has not been reported as a cause of this phenomenon. Identification of these rare hemoglobinopathies may avoid cardiac and pulmonary testing, unnecessary treatments and even hospital admissions.
Aims
To describe the association of Hemoglobin Sydney with artifactually low SpO2.
Methods
HPLC analysis with the VARIANT II equipment and CDM software (Bio-Rad) and acid and alcaline electrophoresis (HYDRASIS, SEBIA HISPANIA) were performed on the hemoglobin of the index case and his father. PCR amplification of the exons 1, 2, 3 and adjacent intronic regions was performed on the HBB gene (betha-hemoglobin gene) and sequence analysis of the amplified region.
Results
A 19-month-old male and his father had low pulse oxygen saturation measured by pulse oximetry (SpO2), which was not confirmed by arterial blood oxigen measurement (SaO2) in the child (index case). The child was referred by his primary care pediatrician to the Emergency ward because of bronchospasm that, in spite of salbutamol nebulizations and oxygen did not improve SpO2 (87%). He was admitted to the hospial ward and treated with salbutamol, corticosteroids and oxygen. A chest XR and cardiac ultrasound were performed which were normal. He had mild compensated hemolysis (hemoglobin 125g/L, VCM 94 fL, reticulocytes 4.5%, haptoglobin <40 mg/L. SaO2 was 96 % (FiO2 21%) when SpO2 was 85%. The patient’s father, grand-father and aunt had history of chronic hemolysis due to an unstable hemoglobin, not further characterized. The grand-father had a history of splenectomy. A hemoglobinopathy causing this falsely low SpO2 was suspected and confirmed. Both the patient and his father had anomalous hemoglobin peaks on HPLC that did not separate at all from HbA1 and DNA sequence analysis exhibited a mutation in heterozigosity in the HBB gene (Beta 87 (E11) Val>Ala) consistent with Sydney hemoglobin. The artifactuosly low SpO2 may be due to abnormal absorption peak measured by pulse oximeter.
Summary
Hemoglobin Sydney is a known unstable hemoglobin which can result in an artifactually low oxygen saturation measurement with pulse oximetry, previously not reported. To describe this association is important in order to avoid unnecessary tests in patients with this rare hemoglobinopathy.
Keyword(s): Hemoglobin variants, Hemoglobinopathy, Pediatric
Session topic: Publication Only
Type: Publication Only
Background
Pulse oximetry is a noninvasive method to measure hemoglobin oxygen saturation and is widely used in different medical settings. Very few variant hemoglobins have been associated with unexpectedly low SpO2. We describe a new family with the unstable hemoglobin Sydney associated to artifactually low SpO2, which, to our knowledge, has not been reported as a cause of this phenomenon. Identification of these rare hemoglobinopathies may avoid cardiac and pulmonary testing, unnecessary treatments and even hospital admissions.
Aims
To describe the association of Hemoglobin Sydney with artifactually low SpO2.
Methods
HPLC analysis with the VARIANT II equipment and CDM software (Bio-Rad) and acid and alcaline electrophoresis (HYDRASIS, SEBIA HISPANIA) were performed on the hemoglobin of the index case and his father. PCR amplification of the exons 1, 2, 3 and adjacent intronic regions was performed on the HBB gene (betha-hemoglobin gene) and sequence analysis of the amplified region.
Results
A 19-month-old male and his father had low pulse oxygen saturation measured by pulse oximetry (SpO2), which was not confirmed by arterial blood oxigen measurement (SaO2) in the child (index case). The child was referred by his primary care pediatrician to the Emergency ward because of bronchospasm that, in spite of salbutamol nebulizations and oxygen did not improve SpO2 (87%). He was admitted to the hospial ward and treated with salbutamol, corticosteroids and oxygen. A chest XR and cardiac ultrasound were performed which were normal. He had mild compensated hemolysis (hemoglobin 125g/L, VCM 94 fL, reticulocytes 4.5%, haptoglobin <40 mg/L. SaO2 was 96 % (FiO2 21%) when SpO2 was 85%. The patient’s father, grand-father and aunt had history of chronic hemolysis due to an unstable hemoglobin, not further characterized. The grand-father had a history of splenectomy. A hemoglobinopathy causing this falsely low SpO2 was suspected and confirmed. Both the patient and his father had anomalous hemoglobin peaks on HPLC that did not separate at all from HbA1 and DNA sequence analysis exhibited a mutation in heterozigosity in the HBB gene (Beta 87 (E11) Val>Ala) consistent with Sydney hemoglobin. The artifactuosly low SpO2 may be due to abnormal absorption peak measured by pulse oximeter.
Summary
Hemoglobin Sydney is a known unstable hemoglobin which can result in an artifactually low oxygen saturation measurement with pulse oximetry, previously not reported. To describe this association is important in order to avoid unnecessary tests in patients with this rare hemoglobinopathy.
Keyword(s): Hemoglobin variants, Hemoglobinopathy, Pediatric
Session topic: Publication Only
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