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

Citations Over TimeTop 10% of 2011 papers

Abstract

Hemoglobinopathies are the most common inherited disorders. Newborn blood screening for clinically significant hemoglobin variants, including sickle (HbS), HbC, and HbD, has been adopted in many countries as it is widely acknowledged that early detection improves the outcome. We present a method for determination of Hb variants by direct surface sampling of dried blood spots by use of an Advion Triversa Nanomate automated electrospray system coupled to a high-resolution mass spectrometer. The method involves no sample preparation. It is possible to unambiguously identify homozygous and heterozygous HbS, HbC, and HbD variants in <10 min without the need for additional confirmation. The method allows for repeated analysis of a single blood spot over a prolonged time period and is tolerant of blood spot storage conditions.

Related Papers

• → Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I(2008)121 cited
• → The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives(2011)83 cited
• → Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots(2019)42 cited
• → Newborn screening residual dried blood spot use for newborn screening quality improvement(2010)12 cited
• → Analytical Perspectives on the Use of Dried Blood Spots and Mass Spectrometry in Newborn Screening(2015)3 cited