GATA1-Related X-Linked Cytopenia

GATA1-Related X-Linked Cytopenia

Definition

X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.

Also known as GATA1-Related Cytopenia, GATA1-Related X-Linked Cytopenia — per MONDO

Also identified as