Rarely erythrocytosis is a consequence of single gene variant (monogenic disorder), that can be acquired (JAK2, indicative for polycythaemia vera, PV) or inherited (EPOR, VHL, EGLN1, EPAS1, EPO, HBB, HBA, BPGM, indicative for congenital erythrocytosis, ECYT) [1,2]. This evidence concerns the gene EGLN1 and acquired polycythemia vera.