Table 1.
GATA1 mutations in hematologic disorders
| Mutation | Disease | Notable features | Reference(s) |
|---|---|---|---|
| V205M | X-linked dyserythropoietic anemia and thrombocytopenia | Severe fetal anemia and postnatal abnormalities in both erythroid and platelet lineages. Also, hypercellular bone marrow with an abundance of large, multinucleated erythroid precursors and small dysplastic megakaryocytes | 40 |
| G208S | X-linked macrothrombocytopenia | Macrothrombocytopenia with severe bleeding, and mild dyserythropoiesis | 41, 42 |
| D218G | |||
| D218Y | X-linked macrothrombocytopenia with severe anemia | More severe phenotype than the D218G mutation due to a stronger block in the GATA1-FOG1 interaction | 43 |
| R216Q | X-linked thrombocytopenia with β-thalassemia | Individuals with the R216Q mutation share notable features with patients with gray platelet syndrome. Patients with the R216W mutation show features of congenital erythropoietic porphyria | 44-47 |
| R216W | |||
| GATA1s without +21 | Inherited macrocytic anemia and neutropenia | Erythroid hypoplasia with mild neutropenia and mild defects in megakaryopoiesis | 48 |
| GATA1s with +21 | TMD | Transient expansion of megakaryoblasts; hepatosplenomegaly, petechiae, and effusions | 5, 58 |
| GATA1s with +21 and a third mutation | AMKL | Fulminant megakaryocytic leukemia | 4, 73 |
+21, trisomy 21.