Article
A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease.
Human molecular genetics - 15 Oct 2016
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
Abstract excerpt
Blood erythropoietin (EPO) increases primarily to hypoxia. In sickle cell anaemia (homozygous HBBE6V; 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 transcriptional responses in blood mononuclear cells but paradoxically further increases EPO. To investigate this apparent...
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