Dehydrated hereditary stomatocytosis with new missense mutations in
PIEZO1 through the use of next-generation sequencing panel
In this case study, we report an 11-year-old male patient who had
jaundice, hepatosplenomegaly, and chronic mild congenital non-autoimmune
hemolytic anemia. In our patient, a novel homozygous missense mutation
in the PIEZO1 gene was detected using a gene-targeted Next-Generation
Sequencing panel: c.3364G>A (p.Glu1122Lys), confirming the
diagnosis of DHS.