MSACL 2019 US Abstract

Diagnosis of Hemoglobinopathy and Beta Thalassemia by 21 Tesla Fourier Transform Ion Cyclotron Resonance MS and Top-Down MS/MS of Hemoglobin from Blood

Lidong He (1), Alan L. Rockwood (2), Archana M. Agarwal (2), Lissa C. Anderson (3), Chad R. Weisbrod (3), Christopher L Hendrickson (3,4), and Alan G. Marshall (3,4)
(1) University of Virginia, Charlottesville, VA (2) University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, UT (3) National High Magnetic Field Laboratory, Tallahassee, FL (4) Florida State University, Tallahassee, FL

Warning: Undefined variable $headshot in /var/www/html/view_abstract/view_abstract_in_program.php on line 704

Lidong He (Presenter) University of Virginia

Presenter Bio: Lidong He is a clinical chemistry postdoctoral fellow at University of Virginia. His interest is mass spectrometry applications in proteomics and metabolomics for clinical diagnosis.

Relevant Financial Disclosures (within past 24 months) No relevant financial relationship(s) to disclose. Discussing Products? NO, presenter will NOT present educational content related to products/services of the ineligible company(ies) listed above. Conflict mitigation NOT REQUIRED.

Human hemoglobin (Hb, ~64 kDa) is a tetramer responsible for physiological oxygen transport. Hemoglobinopathies and thalassemias are the most common genetically determined Hb disorders. Currently, more than 1,500 structurally abnormal hemoglobins have been identified, and HPLC/electrophoresis results can be ambiguous because of limited resolving power. Furthermore, HPLC/electrophoresis is not capable of identifying sequences of unknown sequence variants. Herein we report a top-down MS/MS approach with the advantages of fast data acquisition (3 min), ultrahigh mass accuracy, and extensive residue cleavages by use of positive electrospray ionization 21 tesla FT-ICR MS/MS for Hb variant de novo sequencing and β-thalassemia diagnosis.