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Beta-thalassemia-X-linked thrombocytopenia syndrome
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
ORPHA:231393Classification level: Disorder
- Prevalence: Unknown
- Inheritance: X-linked recessive
- Age of onset: -
- ICD-10: D69.4
- OMIM: 314050
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence of this form is not known.
The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes.
Transmission is X-linked.