Screening G6PD mutation in blood donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with high-throughput and multiple targets.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited disorder worldwide and is particularly prevalent in historically malaria-endemic countries. In this study, we established a matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) assay for G6PD mutation detection. This MALDI-TOF-MS assay with single base extension (SBE) was developed to efficiently and accurately test 19 common G6PD variants in the Chinese population. The MALDI-TOF-MS assay was used to analyze a total of 2,205 peripheral blood samples, including 1,111 normal individuals and 1,094 G6PD gene mutation carriers. All 2,205 sample results were validated by Sanger sequencing in a blinded study. The MALDI-TOF-MS assay developed in this study was applied to detect G6PD mutations in 300 uncharacterized blood donor samples, of which 17 (5.56%) were found to carry G6PD gene mutations. Basic characteristics of regarding the 17 blood donors were summarized and followed up. In this study, a MALDI-TOF-MS assay was applied to blood donors to detect common G6PD mutations in Guangdong, China, which provided a new concept for establishing the information regarding the blood bank database of G6PD deficiency donors.