GATA-1 X-Linked Thrombocytopenia With or Without Dyserythropoietic Anemia (XLTDA)

Chromosome: Xp11.23

Gene: GATA-1 (GATA binding protein 1, erythroid transcription factor)

Inheritance: X-linked (males affected although females may have mild symptoms)

Clinical features:

(1) thrombocytopenia that presents during infancy, with some large and hypogranular

(2) platelet dysfunction

(3) dyserythropoietic anemia, which can be severe enough to cause hydrops fetalis

(4) mild beta-thalassemia

(5) variable neutropenia

(6) variable congenital erythropoietic porphyria

(7) variable hemorrhage, may be severe