Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

To the editor: Erythropoietin production is regulated by the transcription factor hypoxia-inducible factor (HIF). Erythrocytosis with raised erythropoietin levels due to dysregulated HIF activity is recognized as a consequence of a hypomorphic HIFα E3 ubiquitin ligase ( VHL ) allele (Chuvash