Term Name: | X-linked thrombocytopenia with beta-thalassemia |
---|---|
Synonyms: | beta-thalassemia-X-linked thrombocytopenia syndrome, GATA1-related X-linked cytopenia, thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis, XLTT |
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. |
Ontology: | Human Disease [DOID:0111767] ( DOID:0111767 ) |