Table 1 Reported GATA1 mutations in Diamond–Blackfan anemia, X-linked macrothrombocytopenia and related entities

Sankaran et al. [46]

c.220G>C (p.Val74Leu) exon 2 splice site of the GATA1 gene

Loss of the full-length form GATA1

Diamond–Blackfan anemia

Klar et al. [47]

c.220G>C exon 2 of the GATA1 gene

Loss of the full-length form GATA1

Diamond–Blackfan anemia

Holanda et al. [48]

c.332G>C exon 2 of the GATA1 gene

Synthesis of only the short isoform

Anemia and trilineage dysplasia

Parrella et al. [69]

c.2T > C in the initiation codon

Loss of the full-length GATA-1 isoform

Diamond–Blackfan anemia

Nichols et al. [35]

p.Val205Met exon 4 of N-terminal zinc finger domain

Impairs the interaction between GATA1 and FOG1

Hereditary dyserythropoietic anemia and thrombocytopenia

Freson et al. [36]

c.653A>G (p.Asp218Gly) in N-terminal zinc finger domain

Impairs the interaction between GATA1 and FOG1

Hereditary macrothrombocytopenia and mild dyserythropoiesis

Mehaffey et al. [37]

c.622G>T, 623G>C (p.Gly208Ser) in N-terminal zinc finger domain

Impairs the interaction between GATA1 and FOG1

Macrothrombocytopenia and severe bleeding

Yu et al. [38] and Tubman et al. [41]

p.Arg216Gln in N-terminal zinc finger domain

Affect DNA binding, diminishing the ability of the transcription factor to bind GATA binding sites

X-linked thrombocytopenia, absence or paucity of α-granules, thalassemia

Phillips et al. [40]

p.Arg216Trp in N-terminal zinc finger domain

Alters affinity of GATA1 for either FOG-1, or with GATA recognition sites

Congenital erythropoietic porphyria, thrombocytopenia and thalassemia