Clinical Manifestations of Hemoglobin Chico at High Altitude

Starkey, Cindi R.; Davies, Lea; Hoyer, James D.; Wilson, Carla S.; Winter, Stuart S.

doi:10.1097/01.mph.0000243659.71679.e9

“…SaO 2 is sometimes estimated from a measured pO 2 and an empirical equation for the oxyhemoglobin dissociation curve. These calculations normally include correction for pH, temperature, and pCO 2 ; however, other factors such as low O 2 affinity variant hemoglobins, other hemoglobins with abnormal absorption spectra and altered intracellular erythrocyte bisphosphoglycerate concentration, affect the oxygen‐hemglobin equilibrium and invalidate the algorithm [41].…”

Section: Discussionmentioning

confidence: 99%

Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

Verhovsek

¹

,

Henderson

²

,

Cox

³

et al. 2010

View full text Add to dashboard Cite

Pulse oximetry estimates arterial blood oxygen saturation based on light absorbance of oxy‐ and deoxy‐hemoglobin at 660 and 940 nm wavelengths. Patients with unexpectedly low SpO2 often undergo cardio‐pulmonary testing to ascertain the cause of their hypoxemia. However, in a subset of patients, a variant hemoglobin is responsible for low SpO2 measurements. The extent of this problem is unclear. We performed a systematic literature review for reports of low SpO2 associated with variant hemoglobins. We also reviewed unpublished cases from an academic hemoglobin diagnostic reference laboratory. Twenty‐five publications and four unpublished cases were identified, representing 45 patients with low SpO2 and confirmed variant hemoglobin. Fifty‐seven family members of patients had confirmed or suspected variant hemoglobin. Three low oxygen affinity variant hemoglobins had concordantly low SpO2 and SaO2. Eleven variant hemoglobins were associated with unexpectedly low SpO2 measurements but normal SaO2. Hemoglobin light absorbance testing was reported in three cases, all of which showed abnormal absorption spectra between 600 and 900 nm. Seven other variant hemoglobins had decreased SpO2, with unreported or uncertain SaO2. Twenty‐one variant hemoglobins were found to be associated with low SpO2. Most variant hemoglobins were associated with spuriously low SpO2. Abnormal absorption spectra explain the discrepancy between SpO2 and SaO2 for some variants. The differential diagnosis of possible variant hemoglobin ought to be considered in asymptomatic patients found to have unexpectedly low SpO2. The correct diagnosis will help to spare patients from unnecessary investigations and anxiety. Am. J. Hematol., 2010. © 2010 Wiley‐Liss, Inc.

show abstract

“…Also, anemia is expected, since due to the good delivery of oxygen to tissue, there is no hypoxia stimulation for erythropoietin production. Low oxygen affi nity of hemoglobin results in easy oxygen delivery to tissues, only observed in Hb Seattle [ 16 ] , Hb Yoshizuka [ 19 ] and Hb Chico [ 39 ] . In Hb Seattle, hemolysis is present, while in Hb Bassett [ 1 ] and Hb Titusville [ 6 , 24 ] , 2 anomalies with low oxygen-affi ne hemoglobin, low oxygen saturation is the only striking feature.…”

Section: Low Oxygen Affi Nity the Example Of Hemoglobin Venusbergmentioning

confidence: 99%

“…Detailed case histories in pediatric patients are rare. The low oxygen-affi nity anomalies described to date are Hb Venusberg [ 44 ] , Hb Chico [ 39 ] and Hb Bassett [ 1 ] , while Hb Bonn [ 45 ] is the only anomaly with false low pulse oximetry measurements. Due to the limited amount of literature available, we also discuss hemoglobin anomalies which have only been described in adults to date.…”

mentioning

confidence: 95%

Oxygen Saturation in Pulse Oximetry in Hemoglobin Anomalies

Zur¹,

Bağcı

²

,

Ludwig³

et al. 2012

View full text Add to dashboard Cite

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.

show abstract

“…There are four other variant hemoglobins (Hbs Sunshine Seth [9], Louisville [14], Chico [27], and Nishinomiya [46]) and three methemoglobins (Hbs M‐Milwaukee [47], F‐Circleville [11] and FM‐Fort Ripley [8]) all of which have decreased SpO 2 , with unreported or uncertain SaO 2 (Supporting Information—Table III).…”

Section: Resultsmentioning

confidence: 99%

Erratum to: Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

Verhovsek

¹

,

Henderson

²

,

Cox

³

et al. 2011

View full text Add to dashboard Cite

Pulse oximetry estimates arterial blood oxygen saturation based on light absorbance of oxy‐ and deoxy‐hemoglobin at 660 and 940 nm wavelengths. Patients with unexpectedly low SpO2 often undergo cardio‐pulmonary testing to ascertain the cause of their hypoxemia. However, in a subset of patients, a variant hemoglobin is responsible for low SpO2 measurements. The extent of this problem is unclear. We performed a systematic literature review for reports of low SpO2 associated with variant hemoglobins. We also reviewed unpublished cases from an academic hemoglobin diagnostic reference laboratory. Twenty‐five publications and four unpublished cases were identified, representing 45 patients with low SpO2 and confirmed variant hemoglobin. Fifty‐seven family members of patients had confirmed or suspected variant hemoglobin. Three low oxygen affinity variant hemoglobins had concordantly low SpO2 and SaO2. Eleven variant hemoglobins were associated with unexpectedly low SpO2 measurements but normal SaO2. Hemoglobin light absorbance testing was reported in three cases, all of which showed abnormal absorption spectra between 600 and 900 nm. Seven other variant hemoglobins had decreased SpO2, with unreported or uncertain SaO2. Twenty‐one variant hemoglobins were found to be associated with low SpO2. Most variant hemoglobins were associated with spuriously low SpO2. Abnormal absorption spectra explain the discrepancy between SpO2 and SaO2 for some variants. The differential diagnosis of possible variant hemoglobin ought to be considered in asymptomatic patients found to have unexpectedly low SpO2. The correct diagnosis will help to spare patients from unnecessary investigations and anxiety. Am. J. Hematol. 86:722–725, 2011. © 2011 Wiley‐Liss, Inc.

show abstract

Clinical Manifestations of Hemoglobin Chico at High Altitude

Cited by 7 publications

References 11 publications

Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

Oxygen Saturation in Pulse Oximetry in Hemoglobin Anomalies

Erratum to: Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

Contact Info

Product

Resources

About