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Definition

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

Acronym

ECYT8

Synonyms

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

Keywords

Congenital erythrocytosis

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health

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