Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Definition
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Also known as diphosphoglycerate phosphatase deficiency, erythrocytosis, familial, 8 — per MONDO