Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

doi:10.1182/blood-2013-02-482489

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Article

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Blood - 9 May 2013

Andolfo Immacolata, Alper Seth L, De Franceschi Lucia, Auriemma Carla, Russo Roberta, De Falco Luigia, Vallefuoco Fara, Esposito Maria Rosaria, Vandorpe David H, Shmukler Boris E, Narayan Rupa, Montanaro Donatella, D'Armiento Maria, Vetro Annalisa, Limongelli Ivan, Zuffardi Orsetta, Glader Bertil E, Schrier Stanley L, Brugnara Carlo, Stewart Gordon W, Delaunay Jean, Iolascon Achille

Abstract excerpt

Autosomal dominant dehydrated hereditary stomatocytosis (DHSt) usually presents as a compensated hemolytic anemia with macrocytosis and abnormally shaped red blood cells (RBCs). DHSt is part of a pleiotropic syndrome that may also exhibit pseudohyperkalemia and perinatal edema. We identified PIEZO1 as the disease gene for pleiotropic DHSt in a large kindred by exome sequencing analysis within the previously...

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Identifiers

PMID: 23479567
DOI: 10.1182/blood-2013-02-482489

Genes

PIEZO1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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