Rapid detection of genetic modifiers of β-thalassemia based on MALDI-TOF MS.

ABSTRACT: Fetal hemoglobin (HbF) levels are influenced by various genetic modifiers, which have clinically beneficial effects on both β-thalassemia and sickle cell disease. HbF-associated genetic variants are distributed throughout the genome, and current detection methods are often costly, time-consuming, and require multiple tests. Therefore, developing rapid and economical methods for the simultaneous detection of HbF-associated variants is essential for improving the accurate diagnosis of β-hemoglobinopathies. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) was employed to detect 20 well-documented genetic modifiers in BCL11A, KLF1, HBG2, DNMT1, GATAD2A, and HBS1L-MYB intergenic polymorphism (HMIP). The new assay's accuracy, repeatability, and lowest d

SUBMITTER: Huang L 

PROVIDER: S-EPMC12031963 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature