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 |