Results of a prospective study using High-Resolution Mass Spectrometry.

The goal of our study, in cooperation with the University Medical Center Hamburg in Eppendorf Germany, was to evaluate both the efficacy of High-Resolution Mass Spectrometry (HR/MS) in determination of clinically relevant forms of Hemoglobinopathies (e.g. Hb S, Hb C etc.) and investigate the capabilities of HR/MS to more accurately identify Hb variants in the increasing population of carriers.

Since the study started, we have performed analysis on around 2,500 samples using our high-throughput HR/MS assay (Thermo Fisher QExactive Focus; 2 min/­sample). To date, the observed results have compared well with the primary established HPLC method (Bio-rad Variant II) and show good correlation.

The HR/MS method allowed for review of different mass/charge regions, instead of the typical targeted approach used in standard MS applications. This resulted in the detection of unexpected β-mutations. Using this “non-targeted” diagnostic strategy, we identified two Hb Presbyterian variants previously identified as Hb S (according to the HPLC method). The non-targeted review required simply reprocessing the data from previously measured samples. These results emphasize the speed and effectiveness our HR/MS method for use as a diagnostic tool in the complicated Hemoglobinopathy landscape. The study is still on-going and complete results will be available after the study is completed.

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