Investigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis

Figure 1

Representation of diagnostic strategy for patients with erythrocytosis without acquired secondary causes. The most common example of primary erythrocytosis is polycythemia vera (PV). Notably, the majority of idiopathic erythrocytosis patients cannot be classified into the OMIM categories, nor do they have a characterized molecular defect. Consequently, patients with established but unexplained erythrocytosis warrant further investigation [1]. AD: autosomal dominant inheritance, AR: autosomal recessive inheritance. *EPO levels can suggest origins of this disorder.