One such pathogenic variant that we and others have characterized is a heterozygous missense change in the zinc finger domain of KLF1 (p.E325K) that leads to congenital dyserythropoietic anemia (CDA) type IV (Arnaud et al., 2010; Jaffray et al., 2013; Singleton et al., 2011). Here, KLF1 is linked to congenital dyserythropoietic anemia.