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ENErythrocytosis, Familial, 8 (ECYT8)
Alias:
Hemolytic Anemia Due to Diphosphoglycerate Mutase Deficiency
Diphosphoglycerate Mutase Deficiency of Erythrocyte
Deficiency of Bisphosphoglycerate Mutase
Bisphosphoglycerate Mutase Deficiency
Bisphosphoglyceromutase Deficiency
Bpgm Deficiency
Dpgm Deficiency
Ecyt8
Familial Erythrocytosis 8
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency
Erythrocytosis, Familial, Type 8
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Erythrocytosis, Familial, 8, also known as hemolytic anemia due to diphosphoglycerate mutase deficiency, is related to primary polycythemia and deficiency anemia. An important gene associated with Erythrocytosis, Familial, 8 is BPGM (Bisphosphoglycerate Mutase), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Oxidation by cytochrome P450. Affiliated tissues include bone marrow and bone, and related phenotypes are polycythemia and increased hematocrit
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