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Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis
Joint Authors
Pereira, Alexandre Costa
Soares, Renata Alonso Gadi
Krieger, Jose Eduardo
Santos, Paulo Caleb Junior Lima
Schettert, Isolmar Tadeu
Dinardo, Carla Luana
Source
Genetics Research International
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-02
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Background.
Idiopathic erythrocytosis is the term reserved for cases with unexplained origins of abnormally increased hemoglobin after initial investigation.
Extensive molecular investigation of genes associated with oxygen sensing and erythropoietin signaling pathways, in those cases, usually involves sequencing all of their exons and it may be time consuming.
Aim.
To perform a strategy for molecular investigation of patients with idiopathic erythrocytosis regarding oxygen sensing and erythropoietin signaling pathways.
Methods.
Samples of patients with idiopathic erythrocytosis were evaluated for the EPOR, VHL, PHD2, and HIF-2α genes using bidirectional sequencing of their hotspots.
Results.
One case was associated with HIF-2α mutation.
Sequencing did not identify any pathogenic mutation in 4 of 5 cases studied in any of the studied genes.
Three known nonpathogenic polymorphisms were found (VHL p.P25L, rs35460768; HIF-2α p.N636N, rs35606117; HIF-2α p.P579P, rs184760160).
Conclusion.
Extensive molecular investigation of cases considered as idiopathic erythrocytosis does not frequently change the treatment of the patient.
However, we propose a complementary molecular investigation of those cases comprising genes associated with erythrocytosis phenotype to meet both academic and genetic counseling purposes.
American Psychological Association (APA)
Dinardo, Carla Luana& Santos, Paulo Caleb Junior Lima& Schettert, Isolmar Tadeu& Soares, Renata Alonso Gadi& Krieger, Jose Eduardo& Pereira, Alexandre Costa. 2013. Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis. Genetics Research International،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-476239
Modern Language Association (MLA)
Dinardo, Carla Luana…[et al.]. Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis. Genetics Research International No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-476239
American Medical Association (AMA)
Dinardo, Carla Luana& Santos, Paulo Caleb Junior Lima& Schettert, Isolmar Tadeu& Soares, Renata Alonso Gadi& Krieger, Jose Eduardo& Pereira, Alexandre Costa. Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis. Genetics Research International. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-476239
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-476239