A Mass Spectrometry-Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots.

ABSTRACT: Hemoglobinopathies are the most common inherited disorders worldwide. Accurate analysis of hemoglobin variants is critical for diagnosis of hemoglobinopathies. Although high-performance liquid chromatography and capillary zone electrophoresis are widely used as screening tools, they possess inherent ambiguities that often preclude accurate detection of hemoglobin variants. The goal was to develop and optimize a sensitive and specific mass spectrometry-based assay for screening and diagnosis of hemoglobinopathies. A catalog of canonical globin-chain specific peptides as well as mutant peptides corresponding to common hemoglobin variants was generated, and their corresponding heavy synthetic peptide versions were used as internal standards for quantification and calculation of globin chain r

SUBMITTER: Bellad A 

PROVIDER: S-EPMC12597561 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature