beta-thalassemia HBB/LCRB
MONDO:0013517Mondo
Findings
No curated finding names beta-thalassemia HBB/LCRB yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
Definition from the Mondo Disease Ontology (MONDO:0013517), read 2026-09-29. CC BY 4.0.
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.
- HBBHGNC:4827
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (3)
Other names
2 names
Resolves to: beta-thalassemia HBB/LCRB
- Also called
- thalassemia, betathalassemia, hispanic gamma-delta-beta