beta thalassemia
MONDO:0019402Mondo
Findings
No curated finding names beta thalassemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
Definition from the Mondo Disease Ontology (MONDO:0019402), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Microcytic anemiaHPOHP:0001935
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Frequent (30% to 79% of cases)
- Abnormality of iron homeostasisHPOHP:0011031
- Frequent (30% to 79% of cases)
- Abnormality of temperature regulationHPOHP:0004370
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
Show the remaining 9
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
- CholelithiasisHPOHP:0001081
- Occasional (5% to 29% of cases)
- HepatitisHPOHP:0012115
- Occasional (5% to 29% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- 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 · Myriad Women's Health · Autosomal recessive · 2018