GATA-1 X-linked thrombocytopenia with or without dyserythropoietic anemia is classified as a congenital dyserythropoietic anemia.

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

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