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- Title
Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations.
- Authors
Gurnari, Carmelo; Lombardi, Anna M.; Cosi, Elisabetta; Biagetti, Giacomo; Buccisano, Francesco; Franceschini, Luca; Di Veroli, Ambra; Falconi, Giulia; Fabiani, Emiliano; Cantonetti, Maria; Nasso, Daniela; Lo‐Coco, Francesco; Randi, Maria L.; Voso, Maria T.
- Abstract
The article discusses a 2019 genetic analysis of erythrocytosis (E) which shows possible causes of gene mutations linked to hereditary E (HE). Topics covered include the novel heterozygous mutation EGLN1 and their carriers, and its inherited transmission and probable involvement in disease pathogenesis. Also noted is the iron metabolism impairment on erythropoiesis among patients with idiopathic E due to their homeostatic iron regulator (HFE) single neucleotide variants (SNV) exposure.
- Subjects
FERRITIN; POLYCYTHEMIA
- Publication
British Journal of Haematology, 2019, Vol 186, Issue 4, pe100
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.15931