title: Detection of a novel variant human hemoglobin by electrospray ionization mass spectrometry.
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.
authors.affiliation: 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
authors.forename: Heinz
authors.initials: H
authors.lastname: Troxler
authors.forename: Frank
authors.initials: F
authors.lastname: Neuheiser
authors.forename: Peter
authors.initials: P
authors.lastname: Kleinert
authors.forename: Thomas
authors.initials: T
authors.lastname: Kuster
authors.forename: Claus W
authors.initials: CW
authors.lastname: Heizmann
authors.forename: Ragna
authors.initials: R
authors.lastname: Sack
authors.forename: Peter
authors.initials: P
authors.lastname: Hunziker
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Neuhaus
authors.forename: Marlis
authors.initials: M
authors.lastname: Schmid
authors.forename: Hannes
authors.initials: H
authors.lastname: Frischknecht
mesh_terms: D002648:Child; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices / Q000235:genetics; D006580:Genetic Carrier Screening; D006400:Hematocrit; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006971:Hypersplenism / Q000097:blood / Q000150:complications; D008103:Liver Cirrhosis / Q000097:blood / Q000150:complications; D008297:Male; D008970:Molecular Weight; D017044:Polycystic Kidney, Autosomal Recessive / Q000097:blood / Q000150:complications; D011174:Portugal / Q000208:ethnology; D021122:Protein Subunits; D020539:Sequence Analysis, Protein; D021241:Spectrometry, Mass, Electrospray Ionization
chemical_list: D006455:Hemoglobins, Abnormal; D021122:Protein Subunits; C454108:hemoglobin Zurich-Hottingen