Phenotype determination of hemoglobinopathies by mass spectrometry.
OBJECTIVE
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
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.
Zanella-Cleon
Isabelle
I
Institut de Biologie et de Biochimie des Protéines, CNRS UMR 5086, IFR128, Université de Lyon, Lyon, France.
Joly
Philippe
P
Becchi
Michel
M
Francina
Alain
A
D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006454:Hemoglobins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis
D006454:Hemoglobins