Conditions / Other
familial erythrocytosis 8
info · Other
A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.
Signs and symptoms
- Increased circulating hemoglobin concentration
- Reduced erythrocyte bisphosphoglycerate mutase activity
- Increased hematocrit
- Polycythemia
- Splenomegaly
Also known as: BPGM deficiency; DPGM deficiency; ECYT8; bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency