HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations

摘要

Sample preparation (1) Simple, rapid (33 min per sample), inexpensive (< $0.1 per sample) HPLC-ESI-MS/MS analysis (1) Sensitive, greater specificity than IEF or HPLC-UV (2) Faster and less expensive than DNA amplification & sequencing Advantages (1) Detection of HbS, HbC, HbD-Los Angeles, HbE, HbO-Arab,HbG-Philadelphia (2) Flexibility to detect additional hemoglobinopathies Challenges. (1) Detection of thalassemia and Bart's using semi-quantitation.