Acquired mutations in GATA1 are associated with acute megakaryoblastic leukaemia (AMKL) and transient abnormal myelopoiesis (TAM) in children with Down syndrome (DS).[11] Normally, production of both the full length 50KD GATA1 protein product and a 40KD minor isoform occurs. Here, GATA1 is linked to acute megakaryoblastic leukemia.