Table 1. GATA1 mutations in hematologic... | American Society of Hematology

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	X-linked macrothrombocytopenia
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	X-linked thrombocytopenia with β-thalassemia
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

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	X-linked macrothrombocytopenia
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	X-linked thrombocytopenia with β-thalassemia
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.