X-linked dyserythropoietic anemia

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

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.

Signs and symptoms

• Anisocytosis
• Impaired platelet aggregation
• Macrocytic anemia
• Decreased total neutrophil count
• Poikilocytosis
• Bone marrow hypocellularity
• Elliptocytosis
• Abnormal reticulocyte morphology
• Abnormal granulocytopoietic cell morphology
• Thrombocytopenia

Also known as: X-linked anemia with/without neutropenia and/or platelet abnormalities; X-linked dyserythropoietic anemia with abnormal platelets and neutropenia