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Detection of a novel variant human hemoglobin by electrospray ionization mass spectrometry
Authors:Troxler Heinz  Neuheiser Frank  Kleinert Peter  Kuster Thomas  Heizmann Claus W  Sack Ragna  Hunziker Peter  Neuhaus Thomas J  Schmid Marlis  Frischknecht Hannes
Institution:Division of Clinical Chemistry and Biochemistry, Division of Nephrology, Division of Hematology, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, Zurich, CH-8032, Switzerland. heinz.troxler@kispi.unizh.ch
Abstract:A novel hemoglobin variant was detected by electrospray ionization mass spectrometry. Hb Zurich-Hottingen is characterized by an Asn --> Ser replacement in the alpha-chain at position 9 as confirmed by DNA analysis. This hemoglobin variant is silent in isoelectric focusing, reversed-phase chromatography, and cation-exchange chromatography. The mutant alpha-chain was detectable only with electrospray mass spectrometry by its mass shift of -27 Da. The carrier was found to be heterozygous for the new hemoglobin variant. These results illustrate the power of ESI mass spectrometry for hemoglobin analysis.
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