hemolytic anemia due to diphosphoglycerate mutase deficiency
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
MONDO:0003689
familial hemolytic anemia
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0020585
anemia due to erythrocyte enzyme disorder
is_a
diphosphoglycerate phosphatase deficiency
exact
erythrocytosis, familial, 8
exact
SPAC26F1.06