Clinical variability of ATP11C-related hemolytic anemia: expanding the phenotypic and diagnostic spectrum.

doi:10.1182/bloodadvances.2025019161

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Article

Clinical variability of ATP11C-related hemolytic anemia: expanding the phenotypic and diagnostic spectrum.

Blood advances - 28 Jul 2026

D'Onofrio Vanessa, Esposito Federica Maria, Marra Roberta, Rosato Barbara Eleni, Nostroso Antonella, Perrotta Alessia, Matsell Eli, Manno Mariangela, Iscaro Anthony, Dionisi Manuela, Martone Stefania, Arcioni Francesco, Barbato Antonio, Chiariotti Lorenzo, Della Monica Rosa, van Oirschot-Hermans Brigitte A, van Wijk Richard, Molday Robert S, Iolascon Achille, Russo Roberta, Andolfo Immacolata

Abstract excerpt

ABSTRACT: The ATP11C gene, localized on the X chromosome, encodes the major phosphatidylserine flippase in human red blood cells (RBCs). Flippases actively transport phospholipids from the outer to the inner leaflet of the lipid bilayer, establishing and maintaining phospholipid asymmetry crucial for cell survival. Variants in ATP11C have been recently associated with a novel form of X-linked congenital hemolytic...

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Identifiers

PMID: 42018644
DOI: 10.1182/bloodadvances.2025019161
PMCID: PMC13382312

Genes

ATP11C

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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