DO_rare_slim NCIthesaurus has material basis in X-linked recessive disease X-linked thrombocytopenia with beta-thalassemia 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. UMLS_CUI:C1839161 DOID:0111767 disease_ontology MIM:314050 NCI:C134941 SNOMEDCT_US_2025_09_01:718196002 GATA1-related X-linked cytopenia MESH:C564050 ORDO:231393 XLTT beta-thalassemia-X-linked thrombocytopenia syndrome thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis hematopoietic system disease X-linked recessive inheritance