congenital nonspherocytic hemolytic anemia 2

Term ID

DOID:0111077

Synonyms

• hemolytic anemia due to red cell pyruvate kinase deficiency
• PK deficiency
• pyruvate kinase deficiency of erythrocyte
• pyruvate kinase deficiency of red cells
• Red cell pyruvate kinase deficiency

Definition

A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (3)

References

• GARD:7514
• MESH:C564858
• MIM:266200
• ORDO:766

Ontology

Human Disease   ( DOID:0111077 )