A HEMOGLOBIN VARIANT FOUND DURING GLYCOHEMOGLOBIN MEASUREMENT, IDENTIFIED AS Hb TOULON [α77(EF6)Pro→His] BY TANDEM MASS SPECTROMETRY

Caruso, Donatella; Riva, Luca; Giavarini, Flavio; Galli, Giovanni; Brambilla, Sônia Domingues Santos; Luraschi, Paola; Franzini, Carlo

doi:10.1081/hem-120005460

Cited by 6 publications

(5 citation statements)

References 3 publications

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“…, 1999; Waye et al. , 2000; Caruso et al. , 2002), showed as an additional example of silent variant.…”

Section: Resultsmentioning

confidence: 99%

“…Data for these variants compared well with those given in Tables 1 and 2. Hb Toulon, a recently described a-chain variant (Badens et al, 1999;Waye et al, 2000;Caruso et al, 2002), showed as an additional example of silent variant.…”

Section: Resultsmentioning

confidence: 99%

“…Protocol ‘A’ permits the analysis of mixture of intact globin chains using ESI–MS. Intact chains were injected directly or following LC separation into the ion source of the ESI‐ion trap mass spectrometer (LCQ‐ThermoQuest‐Finnigan, San Jose, CA, USA) and ions were detected over a mass range of 300–2000 Da, as described by Caruso et al. (2002).…”

Section: Methodsmentioning

confidence: 99%

“…As a matter of fact, in recent years HPLC assay of human Hb has become a widespread analytical technique for the measurement of glyco-Hb, a post-translational modification of Hb, a very important marker of glucose metabolism in diabetes. Because of the high prevalence of diabetes, HPLC analysis of blood Hb is performed with high frequency in the clinical laboratories, leading to frequent serendipitous discovery of variant Hbs, detected on occasion of glycohaemoglobin HPLC assay (Harvey and Reynolds, 1995;Badens et al, 1999;Lemée et al, 1999;Caruso et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

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High pressure liquid chromatography and electrospray ionization mass spectrometry are advantageously integrated into a two-levels approach to detection and identification of haemoglobin variants

et al. 2005

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Detecting and correctly identifying haemoglobin (Hb) variants is typically achieved by a two-levels laboratory approach. We report our experience in dealing with 91 Hb variants, including a number of frequent and a few rare variants. Screening included akaline agarose gel electrophoresis (AGE), ion-exchange automated high-performance liquid chromatography (HPLC) and a test for deoxyhaemoglobin solubility. Identification was based on electrospray ionization-mass spectrometry (ESI-MS). Our results confirmed the advantages of HPLC over AGE for screening, because of the occurrence of some electrophoretically 'silent' variants. ESI-MS permitted the definitive identification of 90 of the 91 variants included in the study, in some cases (e.g. HbS) through the application of a simple protocol (direct injection of the sample), in other cases requiring the application of more demanding procedures (purification of the variant chain and peptide analysis after enzymatic or chemical cleavage). In an additional case (Hb J-Oxford), ESI-MS assay did not lead to definitive identification, but gave indications for designing the appropriate primers to focus DNA sequence analysis on the specific region of the gene. Deoxyhaemoglobin solubility test was positive only in the presence of HbS. We conclude that HPLC and ESI-MS are advantageously integrated into a two-level analytical system for the detection and confirmation of variant Hbs.

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“…, 1999; Waye et al. , 2000; Caruso et al. , 2002), showed as an additional example of silent variant.…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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High pressure liquid chromatography and electrospray ionization mass spectrometry are advantageously integrated into a two-levels approach to detection and identification of haemoglobin variants

et al. 2005

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“…Hb A 1C is an indicator used to monitor long-term blood sugar control in people with diabetes (1)(2)(3). The Hb A 1C value of diabetic patients must be kept below 7.0% to reduce various diabetes complications.…”

Section: Introductionmentioning

confidence: 99%

A Novel Hemoglobin Variant Found on the α1 Chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys)

Wang

Chu

et al. 2015

Hemoglobin

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Glycosylated hemoglobin (Hb A1C) is a crucial indicator for the long-term control and the diagnosis of diabetes. However, the presence of hemoglobin (Hb) variants may affect the measured value of Hb A1C and result in an abnormal graph trend and inconsistency between the clinical blood sugar test and Hb A1C values. In this study, laboratory data of 41,267 patients with diabetes were collected. The Hb A1C levels and the graph results were examined. We identified 74 cases containing abnormal Hb A1C graph trends. The conducted blood cell counts and capillary Hb electrophoresis were used to analyze Hb variants. We also determined gene variation for the Hb variants by a sequence approach. Fifteen different types of Hb variants were identified in this study. Among these, we found a novel variant in which the α1 subunit of Hb showed an insertion of 24 nucleotides (nts) between the 56th and 57th residues. We named this novel variant Hb Kaohsiung Veterans General Hospital (Hb KSVGH) (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys).

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Current literature in Journal of Mass Spectrometry

2002

J. Mass Spectrom.

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In order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of mass spectrometry. Each bibliography is divided into 11 sections: 1 Books, Reviews & Symposia; 2 Instrumental Techniques & Methods; 3 Gas Phase Ion Chemistry; 4 Biology/Biochemistry: Amino Acids, Peptides & Proteins; Carbohydrates; Lipids; Nucleic Acids; 5 Pharmacology/Toxicology; 6 Natural Products; 7 Analysis of Organic Compounds; 8 Analysis of Inorganics/Organometallics; 9 Surface Analysis; 10 Environmental Analysis; 11 Elemental Analysis. Within each section, articles are listed in alphabetical order with respect to author (4 Weeks journals ‐ Search completed at 21st. Aug. 2002)

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A HEMOGLOBIN VARIANT FOUND DURING GLYCOHEMOGLOBIN MEASUREMENT, IDENTIFIED AS Hb TOULON [α77(EF6)Pro→His] BY TANDEM MASS SPECTROMETRY

Cited by 6 publications

References 3 publications

High pressure liquid chromatography and electrospray ionization mass spectrometry are advantageously integrated into a two-levels approach to detection and identification of haemoglobin variants

High pressure liquid chromatography and electrospray ionization mass spectrometry are advantageously integrated into a two-levels approach to detection and identification of haemoglobin variants

A Novel Hemoglobin Variant Found on the α1 Chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys)

Current literature in Journal of Mass Spectrometry

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