Human genes for X-linked thrombocytopenia with beta-thalassemia
X-linked thrombocytopenia with beta-thalassemia [DOID:0111767]
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 GATA1 on chromosome Xp11.23.
Synonyms: X-linked thrombocytopenia with beta-thalassemia, DOID:0111767, Xlinked thrombocytopenia with betathalassemia, X-linked thrombocytopenia with beta-thalassemias, beta-thalassemia-X-linked thrombocytopenia syndrome ...