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 hemizyg

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.

Signs and symptoms

• Increased mean platelet volume
• Bruising susceptibility
• Reduced platelet alpha granules
• Thrombocytopenia
• Increased RBC distribution width
• Hemolytic anemia
• Prolonged bleeding time
• Petechiae
• Reticulocytosis
• Epistaxis

Also known as: GATA1-related X-linked cytopenia; XLTT; beta-thalassemia-X-linked thrombocytopenia syndrome; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis