fr
Thèse
Anglais

Hemoglobinopathies diagnosis and therapeutic follow-up by top-down mass spectrometry

Contributeurs/tricesCoelho Graca, Didia
Date de soutenance2015-09-01
Résumé

Hemoglobin (Hb) disorders named hemoglobinopathies represent together the most common monogenic disease worldwide. Their biological diagnosis is a complex process relying on the combination of several analytical methods. Currently, the patient phenotype characterization may be difficult due to the lack of selectivity of the techniques used. This thesis project was designed to develop first, a mass spectrometry platform allowing to perform a selective identification of the most common and clinically significant Hb variants and a precise quantification of Hb chains for Hb disorders diagnosis and therapeutic follow-up. These two methods were developed in a low-resolution mass spectrometer already present in clinical laboratories. Second, a strategy relying on high-resolution mass spectrometry was developed for the structural characterization of uncommon Hb variants. Selected diagnostic product ions were used to allow fast and reliable data interpretation of complex high-resolution MS data by unskilled mass spectrometry users.

eng
Mots-clés
  • Hemoglobin
  • Hémoglobine
  • Hemoglobinopathies
  • Hemoglobin diagnosis
  • Mass spectrometry
  • MS
  • MS/MS
  • Spectrométrie de masse
  • Electron transfer dissociation
  • ETD
Citation (format ISO)
COELHO GRACA, Didia. Hemoglobinopathies diagnosis and therapeutic follow-up by top-down mass spectrometry. 2015. doi: 10.13097/archive-ouverte/unige:107037
Fichiers principaux (1)
Thesis
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Identifiants
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Informations techniques

Création19/07/2018 11:57:00
Première validation19/07/2018 11:57:00
Heure de mise à jour15/03/2023 08:30:24
Changement de statut15/03/2023 08:30:23
Dernière indexation29/01/2024 21:33:56
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