Related Experiment Video
Updated: Sep 24, 2025

Uracil-DNA Glycosylase Assay by Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry Analysis
Published on: April 22, 2022
Detection of Hb Yulin [β13(A10)Ala→Val, HBB: c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight
Heng-Xue Su1, Feng Li1, Liang Liang2
1Department of Clinical Laboratory, Hospital of Rong County, Yulin, Guangxi Autonomous Region, People's Republic of China.
Abstract:
We report a rare hemoglobin (Hb) variant on the β-globin gene, which was detected in a female from Yulin City, Guangxi Autonomous Region, People's Republic of China (PRC), during routine thalassemia screening. The Hb variant remained unnoticed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC), while an additional peak was observed by matrix-assisted laser desorption ionization-time-of-flight (MALDI-TOF) mass spectrometry (MS). DNA sequencing revealed the GCC>GTC substitution at codon 13 on the β-globin gene, causing a substitution of alanine to valine. The mutation is only described in the ITHANET database but no Hb variant name and other information, so we named it Hb Yulin after the place of origin of the proband in this study. Hb Yulin is clinically silent and easily leads to misdiagnosis during hemoglobinopathies screening based on the common methods of HPLC and CE.
More Related Videos
10:37Analysis of HBV-Specific CD4 T-cell Responses and Identification of HLA-DR-Restricted CD4 T-Cell Epitopes Based on a Peptide Matrix
Published on: October 20, 2021
11:09An HS-MRM Assay for the Quantification of Host-cell Proteins in Protein Biopharmaceuticals by Liquid Chromatography Ion Mobility QTOF Mass Spectrometry
Published on: April 17, 2018
Related Concept Videos
Matrix-Assisted Laser Desorption Ionization (MALDI)
The analyte of interest, a biomolecule or a mixture of biomolecules, is mixed with a suitable matrix material. The...
MALDI-TOF Mass Spectrometry
Matrix-assisted laser desorption ionization (MALDI) is a commonly...