beta-thalassemia-X-linked thrombocytopenia syndrome
Findings
No curated finding names beta-thalassemia-X-linked thrombocytopenia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
Definition from the Mondo Disease Ontology (MONDO:0010745), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bruising susceptibilityHPOHP:0000978
- 3 of 3 reported patients
- Increased mean platelet volumeHPOHP:0011877
- 3 of 3 reported patients
- Increased RBC distribution widthHPOHP:0031965
- 3 of 3 reported patients
- Reduced platelet alpha granulesHPOHP:0033536
- 3 of 3 reported patients
- ThrombocytopeniaHPOHP:0001873
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GATA1HGNC:4170
- Moderate · Ambry Genetics · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: beta-thalassemia-X-linked thrombocytopenia syndrome
- Also called
- thrombocytopenia with beta-thalassemia, X-linked, X-linked recessiveX-linked thrombocytopenia with Beta-thalassemiaXLTT