First report of a Chinese patient carrying Hb Ty Gard: A case report.

Published in: Medicine (2022)

We report the first case of HbTy Gard in a Chinese population. In areas with a high incidence of Hb diseases, sensitive detection of Hb components and accurate diagnosis of Hb variation are very important, and the combined application of capillary electrophoresis and gene sequencing can diagnose more Hb variants.

Keyphrases

sensitive detection
capillary electrophoresis
copy number
mass spectrometry
quantum dots
risk factors
high resolution
genome wide
case report
gene expression
single cell
transcription factor
loop mediated isothermal amplification