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An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.




Bisphosphoglycerate mutase deficiency
Bisphosphoglyceromutase deficiency
BPGM deficiency
Diphosphoglycerate mutase deficiency of erythrocyte
DPGM deficiency
Erythrocytosis due to bisphosphoglycerate mutase deficiency


Congenital erythrocytosis


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