Dyserythropoietic anaemia with thrombocytopenia (Q88757): Difference between revisions

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.