The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis

Autor: Antonella Zagaria, Francesco Tarantini, Paola Orsini, Luisa Anelli, Cosimo Cumbo, Nicoletta Coccaro, Giuseppina Tota, Crescenzio Francesco Minervini, Elisa Parciante, Maria Rosa Conserva, Immacolata Redavid, Alessandra Ricco, Immacolata Attolico, Giorgina Specchia, Pellegrino Musto, Francesco Albano
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Experimental Hematology & Oncology, Vol 11, Iss 1, Pp 1-4 (2022)
Druh dokumentu: article
ISSN: 2162-3619
DOI: 10.1186/s40164-022-00301-1
Popis: Abstract Erythrocytosis is a clinical condition characterized by increased red cell mass, hemoglobin, and hematocrit values. A significant fraction of patients is described as having idiopathic erythrocytosis. We have previously demonstrated an association between erythrocytosis and the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. In the present study, we investigated genomic and clinical features of 80 erythrocytosis patients with the aim to provide useful information in clinical practice. Patients with idiopathic erythrocytosis could have a genomic germline background, eventually associated with somatic variants. Through association analysis, we show that male patients presenting with idiopathic erythrocytosis, and normal EPO levels could be the best candidates for the search for the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. Further studies are needed to confirm these findings and to depict detailed genomic and phenotypical characteristics of these patients.
Databáze: Directory of Open Access Journals
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