MPN 2021 | Hereditary erythrocytosis
Mary Frances McMullin, MD, Queens University Belfast, Belfast, UK, gives an overview of her presentation on hereditary erythrocytosis, which is characterized by an increased red-cell mass. This condition is most commonly caused by polycythemia vera and can be divided into primary erythrocytosis, when there is an intrinsic defect in the erythroid cell, and secondary erythrocytosis, when the cause is extrinsic to the erythroid cell. Primary hereditary erythrocytosis is caused by mutations in the erythropoietin (EPO) receptor whilst secondary hereditary erythrocytosis is caused by defects in the oxygen sensing pathway, high oxygen-affinity hemoglobin and other molecular defects. In her talk at the 2021 International Congress on MPNs, Prof. McMullin will discuss these mutations and explain how patients should be investigated and managed. This interview took place at the 2021 International Congress on MPNs congress in New York, NY.
