Primary familial polycythemia due to EPO receptor mutation
Primary familial polycythemia due to EPO receptor mutation
Definition
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
Also known as congenital erythrocytosis due to erythropoietin receptor mutation, congenital polycythemia due to erythropoietin receptor mutation, EPOR familial polycythemia, erythrocytosis, familial, 1, erythrocytosis, familial, type 1, erythrocytosis, somatic, familial erythrocytosis, familial erythrocytosis type 1, familial erythrocytosis, 1, familial polycythemia caused by mutation in EPOR, PFCP, primary congenital erythrocytosis, primary familial and congenital polycythemia — per MONDO