X-linked thrombocytopenia with beta-thalassemia (DOID:0111767)
Alliance: disease page
Synonyms: beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT
Alt IDs: OMIM:314050, MESH:C564050, NCI:C134941, ORDO:231393, UMLS_CUI:C1839161
Definition: A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.