Hemoglobin Variant Analysis via Direct Surface Sampling of Dried Blood Spots Coupled with High-Resolution Mass Spectrometry

摘要

Hemoglobinopathies are the most common inherited disorders. Newbornnblood screening for clinically significant hemoglobin variants, including sicklen(HbS), HbC, and HbD, has been adopted in many countries as it is widely acknowledgednthat early detection improves the outcome. We present a method forndetermination of Hb variants by direct surface sampling of dried blood spots by usenof an Advion Triversa Nanomate automated electrospray system coupled to a highresolutionnmass spectrometer. The method involves no sample preparation. It isnpossible to unambiguously identify homozygous and heterozygous HbS, HbC, and HbD variants in <10 min without the need fornadditional confirmation. The method allows for repeated analysis of a single blood spot over a prolonged time period and is tolerantnof blood spot storage conditions.