X-linked dyserythropoietic anemia

Term ID

DOID:0112156

Synonyms

• X-linked anemia with/without neutropenia and/or platelet abnormalities
• X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

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. (2)

References

• OMIM:300835
• ORDO:363727

Ontology

Human Disease   ( DOID:0112156 )