(Table 1) (137–139) Two main classes of GATA1 variants exist: 1) splicing or start-loss, which lead to expression of a shorter isoform protein (i.e. GATA1s - without N-terminal transactivation domain), which can give rise to moderate to severe anemia, neutropenia and/or DBA-like phenotypes (138, 140, 141) and 2) missense variants in exons 3 and 4, most commonly in the N-terminal ZF domain which mediates the interaction with co-factor Friend of GATA1 (FOG-1) giving rise to cytopenia-related phenotypes (137, 138, 142). Here, GATA1 is linked to Diamond-Blackfan anemia.