GATA1-related cytopenia

A heterogeneous inherited disorder marked by varying combinations of thrombocytopenia, dyserythropoietic anemia, macrothrombocytopenia, β‑thalassemia‑like red‑cell abnormalities, and/or neutropenia, reflecting impaired transcriptional regulation of erythroid and megakaryocytic development. Affected individuals may present with mucocutaneous bleeding, anemia, abnormal platelet morphology, or multilineage cytopenias, with severity ranging from isolated thrombocytopenia to syndromic tri‑lineage involvement.