GATA1 and Down syndrome: Of note, GATA1 is also mutated in myeloid leukemia of Down syndrome (ML-DS) that frequently present with erythroid cell marker expression, and is generally considered at the frontier between megakaryoblastic and erythroid leukemia.132 While numerous studies have addressed GATA1 function, it is likely that further analyses are required to fully understand how the activity of GATA1 is fine-tuned and how these alterations contribute to erythroid transformation.