Tiny Protein Changes Cause Disease: Hemoglobin Variant Detection High-Resolution Mass Spectrometry

In this clip, Ainslie Chen explains why traditional hemoglobinopathy testing falls short—and how even a single amino acid change in hemoglobin’s structure can lead to diseases like anemia and sickle cell disease. Discover how her team’s use of high-resolution mass spectrometry enables the detection and identification of hemoglobin subunits with mass shifts less than 1 Dalton from normal, uncovering variants that conventional assays can easily miss. Key points include: The large, complex structure of hemoglobin and its susceptibility to single amino acid changes How subtle structural distortions can trigger significant clinical outcomes The importance of resolving nearly "invisible" variants for improved diagnosis and treatment Perfect for viewers interested in analytical chemistry, clinical diagnostics, and the future of precision medicine. #Hemoglobinopathy #MassSpectrometry #ProteinAnalysis #ClinicalDiagnostics #SickleCell