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Hemolytic anemia due to diphosphoglycerate mutase deficiency
rareA rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
- Identifiers
- MONDO:0009113 OMIM:222800Orphanet:714
- Causal genes
- BPGM
- Part of
- Anemia due to erythrocyte enzyme disorderFamilial hemolytic anemiaFamilial polycythemiaInborn errors of metabolism
- Also known as
- diphosphoglycerate phosphatase deficiency · erythrocytosis, familial, 8
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