GATA1 gene exon 2 mutation

Clinical significance

• GATA1 gene mutations are the cause of:
  • X-linked dyserythropoietic anemia & thrombocytopenia
  • X-linked thrombocytopenia with beta-thalassemia

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• GATA binding factor-1; erythroid transcription factor GATA-1 (ERYF1, GF-1, NF-E1, GATA1)