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

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.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.urihttp://hdl.handle.net/10952/9100
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.language.isoenes
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
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.rights.accessRightsopen accesses
dc.journal.titleBlood Cancer Journales
dc.volume.number15es
dc.issue.number8es
dc.description.disciplineMedicinaes
dc.identifier.doi10.1038/s41408-025-01216-wes
dc.description.facultyMedicinaes


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