Causes of hereditary erythrocytosis
| Causes |
| Primary |
| EPO receptor mutations |
| SH2B3 (LNK) mutations |
| Secondary |
| Oxygen-sensing pathway defects |
| EGLN1 (PHD2) |
| VHL |
| EPAS1 (HIF2A) |
| Gain-of-function mutation EPO gene |
| High oxygen-affinity Hbs |
| Methemoglobinemia |
| Bisphosphoglycerate mutase deficiency |
| SLC30A10 mutations with hypermanganesemia |
| Hereditary increase in adenosine triphosphate |
| Causes |
| Primary |
| EPO receptor mutations |
| SH2B3 (LNK) mutations |
| Secondary |
| Oxygen-sensing pathway defects |
| EGLN1 (PHD2) |
| VHL |
| EPAS1 (HIF2A) |
| Gain-of-function mutation EPO gene |
| High oxygen-affinity Hbs |
| Methemoglobinemia |
| Bisphosphoglycerate mutase deficiency |
| SLC30A10 mutations with hypermanganesemia |
| Hereditary increase in adenosine triphosphate |