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Article

Refined classification and phenotype-driven analysis of PIEZO1 variants in hereditary red blood cell and iron disorders.

Blood - 9 Jul 2026

Rosato Barbara Eleni, Marra Roberta, Martone Stefania, Manno Mariangela, Dionisi Manuela, Ribersani Michela, Pinto Valeria Maria, Forni Gian Luca, Balocco Manuela, Carrara Paola, Lamagna Martina, Morisco Filomena, Guarino Maria, Cossiga Valentina, Barbato Antonio, Arcioni Francesco, Iolascon Achille, Russo Roberta, Andolfo Immacolata

Abstract excerpt

ABSTRACT: Interpreting genetic variants in complex genes such as PIEZO1 remains challenging because of marked allelic heterogeneity, relative tolerance to missense variation, and overlapping clinical phenotypes. Gain-of-function variants in PIEZO1 cause dehydrated hereditary stomatocytosis (DHS1, or hereditary xerocytosis), a pleiotropic syndrome characterized by anemia of variable severity and iron overload. In...

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Share to Anemia, Hemolytic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42013021
DOI: 10.1182/blood.2025031632
PMCID: PMC13386098

Genes

PIEZO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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