Table 2.
Platelet disorders associated with GATA1 mutations
| Clinical disorder | Genetic mutation | Extent of disruption of GATA1/FOG1 interaction | Degree of anemia | Degree of thrombocytopenia |
|---|---|---|---|---|
| Thrombocytopenia ± dyserythropoietic anemia (MIM 300367) | V205M | Severe | ++ | ++/+++ |
| D218Y | Severe | ++ | +++ | |
| D218G | Mild | − | +/++/+++ | |
| G208S | Mild | − | ++ | |
| G208R | Unknown | ++ | +++ | |
| Thrombocytopenia with β-thalassemia (MIM 314050) | R216Q | − (disrupts DNA binding) | ± | + and GPS |
| Macrocytic anemia; neutropenia; normal platelet count (MIM 300835) | Splice mutation 332G->C, V74L | − | +/++/+++ (many cases also with neutropenia) | − |
| Dyserythropoietic anemia; MK dysplasia; thrombocytosis | Splice mutation in 5′-untranslated region | − | +++ (occasional neutropenia) | − |
Anemia: hemoglobin (Hb) ≥10 g/dL (+); Hb 7 to <10 g/dL (++); and Hb <7 g/dL (+++).
Thrombocytopenia: 70 000 to 90 000 × 109/L (+); ≥20 000 to <70 000 × 109/L (++); and <20 000 × 109/L (+++).
GPS, Gray platelet syndrome.