CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier

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dc.contributor.authorMorales, M. L.
dc.contributor.authorCano, H.
dc.contributor.authorde la Morena Barrio, B.
dc.contributor.authorVives Corrons, J. L.
dc.contributor.authorCuenca Zamora, E. J.
dc.contributor.authorGarrido Rodríguez, P.
dc.contributor.authorBento, C.
dc.contributor.authorPereria, J.
dc.contributor.authorMartínez Nieto, J.
dc.contributor.authorChen-Liang, T. H.
dc.contributor.authorFuster, J. L.
dc.contributor.authorCaracena, S.
dc.contributor.authorLozano, M. L.
dc.contributor.authorTeruel Montoya, Raúl
dc.contributor.authorCorral, J.
dc.contributor.authorFerrer Marín, F.
dc.date.accessioned2025-02-03T08:59:39Z
dc.date.available2025-02-03T08:59:39Z
dc.date.issued2025
dc.descriptionHereditary hemolytic anemias (HHA) are rare inherited red blood cell (RBC) disorders caused by genetic abnormalities (hemoglobino/membrano/enzymopathies), characterized by anemia due to premature RBC destruction and intrinsic RBC defects. One of the rarer enzymopathies involves a deficiency in phosphoglycerate kinase 1 (PGK1), an X-linked gene critical for ATP production via glycolysis [1]. PGK1 mutations causing deficiency (OMIM#300653) [2] follow an X-linked recessive inheritance pattern, affecting hemizygous males, while female carriers are generally asymptomatic or may have mild symptoms -consistent with mosaicism for PGK1 activity-[2]. Despite PGK1 is ubiquitously expressed, its deficiency mainly affects the blood, central nervous system (CNS), and skeletal muscle, resulting in chronic hemolysis -with or without anemia-, neurological disorders, or myopathies [1]. Likely explained by the causative PGK1 mutation [3], hemolytic anemias (HA) tends to co-occur with CNS defects, whereas myopathies are almost exclusively observed [3, 4]. To date, approximately 40 patients harboring 30 different mutations have been reported [5]. This report presents the first case of severe HA in a female PGK1 mutation heterozygous carrier [6], which became apparent coinciding with the diagnosis of essential thrombocythemia (ET); and elucidates the mechanism by which a clonal disorder transforms a germline recessive disease into a tissue-specific dominant condition.es
dc.description.disciplineMedicinaes
dc.description.facultyMedicinaes
dc.identifier.citationMorales, M.L., Cano, H., de la Morena-Barrio, B. et al. CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier. Blood Cancer J. 15, 8 (2025). https://doi.org/10.1038/s41408-025-01216-wes
dc.identifier.doi10.1038/s41408-025-01216-wes
dc.identifier.urihttp://hdl.handle.net/10952/9100
dc.issue.number8es
dc.journal.titleBlood Cancer Journales
dc.language.isoenes
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.accessRightsopen accesses
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleCALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrieres
dc.typejournal articlees
dc.volume.number15es
dspace.entity.typePublication
person.affiliation.nameUniversidad Católica San Antonio de Murcia
person.identifier.orcid0000-0002-6741-9725
relation.isAuthorOfPublication6386f408-8ce0-480f-adb4-a41ec71dfff7
relation.isAuthorOfPublication.latestForDiscovery6386f408-8ce0-480f-adb4-a41ec71dfff7

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