A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease

Blood erythropoietin (EPO) increases primarily to hypoxia. In sickle cell anaemia (homozygous HBB(E6V); HbSS), plasma EPO is elevated due to hemolytic anaemia-related hypoxia. Hydroxyurea treatment reduces haemolysis and anaemia by increasing foetal haemoglobin, which leads to lower hypoxic transcri...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Zhang, Xu, Shah, Binal N., Zhang, Wei, Saraf, Santosh L., Miasnikova, Galina, Sergueeva, Adelina, Ammosova, Tatiana, Niu, Xiaomei, Nouraie, Mehdi, Nekhai, Sergei, Castro, Oswaldo, Gladwin, Mark T., Prchal, Josef T., Garcia, Joe G. N., Machado, Roberto F., Gordeuk, Victor R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2016
Schlagworte:
Association Studies Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6078595/
https://ncbi.nlm.nih.gov/pubmed/28173069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw299
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