dominant beta-thalassemia
Findings
No curated finding names dominant beta-thalassemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.
Definition from the Mondo Disease Ontology (MONDO:0011381), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
53 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.
- Decreased mean corpuscular hemoglobin concentrationHPOHP:0025547
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Erythrocyte inclusion bodiesHPOHP:0020080
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Increased HbA2 hemoglobinHPOHP:0045048
- 1 of 1 reported patient
- Microcytic anemiaHPOHP:0001935
- 1 of 1 reported patient
- Persistence of hemoglobin FHPOHP:0011904
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 41
- Hypochromic microcytic anemiaHPOHP:0004840
- Frequent (30% to 79% of cases)
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Occasional (5% to 29% of cases)
- Abnormality of iron homeostasisHPOHP:0011031
- Occasional (5% to 29% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
- ArthralgiaHPOHP:0002829
- Occasional (5% to 29% 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.
- HBBHGNC:4827
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Natera · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: dominant beta-thalassemia
- Also called
- inclusion body beta-thalassemiathalassemia-beta, dominant inclusion-body