Anemia x-linked with variable neutropenia

An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.

Disease Alternative Name

x-linked thrombocytopenia
with or without dyserythropoietic anemia
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