X-linked dyserythropoietic anemia (DOID:0112156)
Alliance: disease page
Synonyms: X-linked anemia with/without neutropenia and/or platelet abnormalities; X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Alt IDs: OMIM:300835, ORDO:363727
Definition: An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.