Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Definition
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.
Also known as thrombocytopenia, X-linked, with or without dyserythropoietic anemia, thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive, X-linked thrombocytopenia, with or without dyserythropoietic Anaemia, X-linked thrombocytopenia, with or without dyserythropoietic Anemia — per MONDO