beta-thalassemia major
Findings
No curated finding names beta-thalassemia major yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
Definition from the Mondo Disease Ontology (MONDO:0016486), read 2026-09-29. CC BY 4.0.
Features
50 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.
- Anemia of inadequate productionHPOHP:0010972
- Very frequent (80% to 99% of cases)
- AnisopoikilocytosisHPOHP:0004823
- Very frequent (80% to 99% of cases)
- Decreased mean corpuscular hemoglobin concentrationHPOHP:0025547
- Very frequent (80% to 99% of cases)
- Decreased mean corpuscular volumeHPOHP:0025066
- Very frequent (80% to 99% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- Persistence of hemoglobin FHPOHP:0011904
- Very frequent (80% to 99% of cases)
- Reduced hemoglobin AHPOHP:0011905
- Very frequent (80% to 99% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Frequent (30% to 79% of cases)
- Abnormality of iron homeostasisHPOHP:0011031
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Bowing of the long bonesHPOHP:0006487
- Frequent (30% to 79% of cases)
Show the remaining 38
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Extramedullary hematopoiesisHPOHP:0001978
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% 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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: beta-thalassemia major
- Also called
- Beta thalassemia MajorCooley anaemiaCooley anemiaCooley's AnaemiaCooley's AnemiaMediterranean anaemiaMediterranean anemia