| Description | Protein which, if defective, causes congenital absolute erythrocytosis, a disorder characterized by expansion of the erythrocyte compartment in the peripheral blood. Total red cell mass is increased in the absence of a reduction of plasma volume Erythrocytoses are usually divided into primary and secondary forms Primary erythrocytoses are due to defects in the erythroid progenitors and are characterized by low erythropoietin levels. Secondary erythrocytoses can be due to defects in hypoxia sensing, or to conditions that cause low tissue oxygen tension with consequent increase in erythropoietin secretion |
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