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Doctoral thesis
English

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

Defense date2015-09-01
Abstract

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
Keywords
  • Hemoglobin
  • Hémoglobine
  • Hemoglobinopathies
  • Hemoglobin diagnosis
  • Mass spectrometry
  • MS
  • MS/MS
  • Spectrométrie de masse
  • Electron transfer dissociation
  • ETD
Citation (ISO format)
COELHO GRACA, Didia. Hemoglobinopathies diagnosis and therapeutic follow-up by top-down mass spectrometry. 2015. doi: 10.13097/archive-ouverte/unige:107037
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Thesis
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Technical informations

Creation07/19/2018 11:57:00 AM
First validation07/19/2018 11:57:00 AM
Update time03/15/2023 8:30:24 AM
Status update03/15/2023 8:30:23 AM
Last indexation01/29/2024 9:33:56 PM
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