Dyserythropoietic anaemia with thrombocytopenia (Q88757): Difference between revisions

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Latest revision as of 15:08, 15 August 2026

This syndrome is characterised by dyserythropoietic anaemia and thrombocytopaenia. The prevalence is unknown but the disease appears to be very rare. Affected individuals display paucity of the platelets, dysmorphic erythrocytes (poikilocytosis and anisocytosis), defective megakaryocyte maturation and cytoplasmic membrane system abnormalities. Cryptorchidism has also been reported. The syndrome is caused by a mutation in the GATA1 gene, a transcription factor required for normal erythroid and megakaryocytic differentiation. Transmission is X-linked.

Language	Label	Description	Also known as
default for all languages	ID_383332048
English	Dyserythropoietic anaemia with thrombocytopenia	This syndrome is characterised by dyserythropoietic anaemia and thrombocytopaenia. The prevalence is unknown but the disease appears to be very rare. Affected individuals display paucity of the platelets, dysmorphic erythrocytes (poikilocytosis and anisocytosis), defective megakaryocyte maturation and cytoplasmic membrane system abnormalities. Cryptorchidism has also been reported. The syndrome is caused by a mutation in the GATA1 gene, a transcription factor required for normal erythroid and megakaryocytic differentiation. Transmission is X-linked.