beta-thalassemia intermedia
MONDO:0016487Mondo
Findings
No curated finding names beta-thalassemia intermedia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Definition from the Mondo Disease Ontology (MONDO:0016487), read 2026-09-29. CC BY 4.0.
Features
36 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)
- Decreased mean corpuscular volumeHPOHP:0025066
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Persistence of hemoglobin FHPOHP:0011904
- Very frequent (80% to 99% of cases)
- Abnormality of iron homeostasisHPOHP:0011031
- Frequent (30% to 79% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Erythroid hyperplasiaHPOHP:0012132
- Frequent (30% to 79% of cases)
- Extramedullary hematopoiesisHPOHP:0001978
- Frequent (30% to 79% of cases)
- HypercoagulabilityHPOHP:0100724
- Frequent (30% to 79% of cases)
- Increased HbA2 hemoglobinHPOHP:0045048
- Frequent (30% to 79% of cases)
- Increased susceptibility to fracturesHPOHP:0002659
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
Show the remaining 24
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% of cases)
- Skin ulcerHPOHP:0200042
- Frequent (30% to 79% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Occasional (5% to 29% of cases)
- Abnormality of the liverHPOHP:0001392
- Occasional (5% to 29% of cases)
- CholelithiasisHPOHP:0001081
- 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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of