Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111767 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.