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 )

Relationships
is a type of: hematopoietic system disease X-linked recessive disease