has material basis in germline mutation in
GATA1
hereditary disease
hematologic disorder
GATA1-Related X-Linked Cytopenia
GATA1-Related X-Linked Cytopenia
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.
GATA1-Related Cytopenia
MONDO:0100089