1. CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier.
- Author
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Morales, M. L., Cano, H., de la Morena-Barrio, B., Vives-Corrons, J. L., Cuenca-Zamora, E. J., Garrido-Rodríguez, P., Bento, C., Pereira, J., Martínez Nieto, J., Chen-Liang, T. H., Fuster, J. L., Caracena, S., Lozano, M. L., Teruel-Montoya, R., Corral, J., and Ferrer-Marín, F.
- Subjects
SINGLE nucleotide polymorphisms ,GENE expression ,GENETIC disorders ,ERYTHROCYTE deformability ,PHOSPHOGLYCERATE kinase - Abstract
The article published in the Blood Cancer Journal discusses a rare case of severe hemolytic anemia in a female carrier of the PGK1Ser320Asn mutation. The patient's condition was complicated by essential thrombocythemia, revealing a unique mechanism by which clonal hematopoiesis transformed a recessive genetic disorder into a dominant condition. The study delves into the genetic, molecular, and clinical aspects of the case, shedding light on the complex interplay between genetic mutations, X-chromosome inactivation, and somatic oncogenic events in the manifestation of hematological disorders. The findings highlight the need for further research and potential targeted therapies for such complex genetic conditions. [Extracted from the article]
- Published
- 2025
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