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Hemoglobin disorder diagnosis is a complex procedure combining several analytical steps. Due to the lack of specificity of the currently used protein analysis methods, the identification of uncommon hemoglobin variants (proteoforms) can become a hard task to accomplish. The aim of this work was to develop a mass spectrometry-based approach to quickly identify mutated protein sequences within globin chain variants. To reach this goal, a top-down electron transfer dissociation mass spectrometry method was developed for hemoglobin beta chain analysis. A diagnostic product ion list was established with a color code strategy allowing to quickly and specifically localize a mutation in the hemoglobin beta chain sequence. The method was applied to the analysis of rare hemoglobin beta chain variants and an (A)gamma-beta fusion protein. The results showed that the developed data analysis process allows fast and reliable interpretation of top-down electron transfer dissociation mass spectra by nonexpert users in the clinical area.
Ivo Fabio Beck, Benjamin Jérémy Laurent Heutte, Imad El Haddad, Jakob Boyd Pernov, Hélène Paule Angot, Lubna Dada
Julia Schmale, Ivo Fabio Beck, Benjamin Jérémy Laurent Heutte, Imad El Haddad, Jakob Boyd Pernov, Hélène Paule Angot, Lubna Dada