X-linked thrombocytopenia with beta-thalassemia

Term ID

DOID:0111767

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. (2)

References

• MESH:C564050
• MIM:314050
• NCI:C134941
• ORDO:231393
• SNOMEDCT_US_2023_03_01:718196002
• UMLS_CUI:C1839161

Ontology

Human Disease   ( DOID:0111767 )