Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations

• Main Authors: Wanna Thongnoppakhun, Surasak Jiemsup, Suganya Yongkiettrakul, Chompunut Kanjanakorn, Chanin Limwongse, Prapon Wilairat, Anusorn Vanasant, Nanyawan Rungroj, Pa Thai Yenchitsomanus
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/27326

A number of common mutations in the hemoglobin β (HBB) gene cause β-thalassemia, a monogenic disease with high prevalence in certain ethnic groups. As there are 30 HBB variants that cover more than 99.5% of HBB mutant alleles in the Thai population, an efficient and cost-effective screening method i...