Literature DB >> 19409377

Phenotype determination of hemoglobinopathies by mass spectrometry.

Isabelle Zanella-Cleon1, Philippe Joly, Michel Becchi, Alain Francina.   

Abstract

OBJECTIVES: Nowadays, nearly 1000 hemoglobin (Hb) variants are known. The standard biochemical techniques used in Hb analysis are mainly: isoelectric focusing, cation-exchange liquid chromatography (LC) and reversed-phase LC. In addition to this approach, a protein analysis is achieved by mass spectrometry (MS) and additional DNA studies are performed. The aim of this review is to emphasize the significance of MS methods applied to Hb variants analysis. RESULTS AND PERSPECTIVES: To perform Hb studies, different MS techniques are currently used such as electrospray ionization (ESI), matrix-assisted laser desorption ionization (MALDI) and tandem mass spectrometry (MS/MS). As shown here, MS is an efficient tool for identification of all types of variants (substitution of a single amino acid residue, several substitutions in the same globin chain, insertions/deletions, fusion Hbs). The use of MS in neonatal screening of Hb variants is also presented.
CONCLUSIONS: MS is a powerful technique for Hb analysis. It appears as being an important additional method in the set of biochemical techniques.

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Year:  2009        PMID: 19409377     DOI: 10.1016/j.clinbiochem.2009.04.010

Source DB:  PubMed          Journal:  Clin Biochem        ISSN: 0009-9120            Impact factor:   3.281


  2 in total

1.  MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies.

Authors:  Roger Théberge; Sergei Dikler; Christian Heckendorf; David H K Chui; Catherine E Costello; Mark E McComb
Journal:  J Am Soc Mass Spectrom       Date:  2015-05-22       Impact factor: 3.109

Review 2.  Mass Spectrometric Studies of Apolipoprotein Proteoforms and Their Role in Lipid Metabolism and Type 2 Diabetes.

Authors:  Dobrin Nedelkov
Journal:  Proteomes       Date:  2017-10-15
  2 in total

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