familial erythrocytosis 5

A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.

Signs and symptoms

• Increased circulating hemoglobin concentration
• Increased hematocrit
• Elevated circulating erythropoietin concentration
• Polycythemia

Also known as: ECYT5