Electrospray triple quadrupole mass spectrometry guides pathologists to suggest appropriate molecular testing in the identification of rare hemoglobin variants.

ABSTRACT:

Background

The presumptive diagnosis of hemoglobinopathies relies on routine tests such as Complete Blood Count (CBC), peripheral blood smear, Liquid Chromatography (LC), and Capillary Electrophoresis (CE), along with clinical findings. Pathologists suggest molecular sequencing of HBA and HBB genes to correlate blood picture with clinical findings in order to identify unknown rare haemoglobin (Hb) variants or variants that coelute with Hb. This paper presents a low-resolution mass spectrometry (MS)-based method for presumptive identification of variants that eluted in zone 12 of CE, followed by molecular sequencing of the HBB gene for a definitive diagnosis of hemoglobinopathies.

Methods

Eight patient samples with a variant peak in zone 12 of CE (Sebia) were analyzed using M

SUBMITTER: Dakshinamoorthy Putchen D 

PROVIDER: S-EPMC10874710 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature