A recent study published in Blood (November 2024) has identified Hepatic-like Erythropoietin Polycythemia (HEP) as a novel cause of hereditary and acquired erythrocytosis. Researchers discovered mutations in the EPO gene, leading to an alternative liver-type glycosylation pattern that enhances erythropoietin activity, contributing to increased red cell mass.
This discovery sheds light on a distinct form of secondary erythrocytosis and highlights the importance of quantitative and qualitative EPO screening for patients with unexplained polycythemia. The findings also provide insights into the physiological transition from liver to kidney EPO production in newborns, which may explain hemoglobin level shifts after birth.
Thank you to all the researchers for their contribution to this important work!
For more details, refer to the study published in Blood:https://lnkd.in/emMhHGSa
