EPO-Receptor

Some cases of primary erythrocytosis are due to a mutation of the receptor for the main erythroid-stimulating cytokine, erythropoietin (Epo). The mutations are germianal, i.e. not restricted to hematopoietic cells. They are most often inherited (family history of erythrocytosis) but they can also happen de novo. See our section Congenital Erythrocytosis. Click here to get a table listing the labs offering the screening for EPOR mutations.