Table 2.
GATA1 Mutations and Associated Abnormalities
| Phenotype | Mutation | Disruption in GATA1/FOG-1 Interaction |
Anemia | Thrombocytopenia |
|---|---|---|---|---|
| Thrombocytopenia +/− Dyserythropoietic Anemia (MIM 300367) | V205M50 | +++ | ++ | ++/+++ |
| D218Y49 | +++ | ++ | +++ | |
| D218G51 | + | − | +/++/+++ | |
| G208S52 | + | − | ++ | |
| G208R54 | no information | ++ | +++ | |
| Thrombocytopenia with β-thalassemia (MIM 314050) | R216Q9,53,55,75 | − (disrupts DNA binding) | +/− | + and GPS |
| Macrocytic anemia; Neutropenia; Normal platelet count (MIM 300835) | Splice mutation 332G->C, V74L59 | − | +/++/+++ (many cases also with neutropenia) | − |
| Dyserythropoietic Anemia; Megakaryocyte dysplasia; Thrombocytosis | Splice mutation in 5’UTR60 | − | +++ (occasional neutropenia) | − |
Anemia: + Hb ≥ 10 g/dL, ++ Hb 7 – < 10 g/dL, +++ Hb < 7 g/dL
Thrombocytopenia: + 70,000–90,000 × 109/L, ++ ≥ 20,000– < 70,000 × 109/L, +++ < 20,000 109/L
GPS, Gray platelet syndrome