Endemic polycythemia in Russia: mutation in the VHL gene
SO Ang, H Chen, VR Gordeuk, AI Sergueeva… - Blood Cells, Molecules …, 2002 - Elsevier
Chuvash polycythemia (CP) is an autosomal recessive condition that is endemic in the
Russian mid-Volga River region of Chuvashia. We previously found that CP patients may
have increased serum erythropoietin (EPO) levels, ruled out linkage to both the EPO and
EPO receptor (EPOR) gene loci, and hypothesized that the defect may lie in the oxygen
homeostasis pathway. We now report a study of five multiplex Chuvash families which
confirms that CP is associated with significant elevations of serum EPO levels and rules out …
Russian mid-Volga River region of Chuvashia. We previously found that CP patients may
have increased serum erythropoietin (EPO) levels, ruled out linkage to both the EPO and
EPO receptor (EPOR) gene loci, and hypothesized that the defect may lie in the oxygen
homeostasis pathway. We now report a study of five multiplex Chuvash families which
confirms that CP is associated with significant elevations of serum EPO levels and rules out …