Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Erythrocyte inclusion bodies
Always present (100%)HP:0020080
Increased hemoglobin A2
Always present (100%)HP:0045048
Microcytic anemia
Always present (100%)HP:0001935
Persistence of haemoglobin F
Very frequent (80-99%)HP:0011904
Reduced HbA
Very frequent (80-99%)HP:0011905
Anisocytosis
Frequent (30-79%)HP:0011273
Decreased mean corpuscular haemoglobin
Frequent (30-79%)HP:0025547
Decreased mean corpuscular volume
Frequent (30-79%)HP:0025066
Extramedullary hematopoiesis
Frequent (30-79%)HP:0001978
Hypersplenism
Frequent (30-79%)HP:0001971
Hypochromic, microcytic anaemia
Frequent (30-79%)HP:0004840
Paleness
Frequent (30-79%)HP:0000980
Abnormal skeletal morphology
Occasional (5-29%)HP:0011842
Abnormality of iron homeostasis
Occasional (5-29%)HP:0011031
Arthralgias
Occasional (5-29%)HP:0002829
Blood clot in vein
Occasional (5-29%)HP:0004936
Bowed long bones
Occasional (5-29%)HP:0006487
Chronic hepatitis
Occasional (5-29%)HP:0200123
Chronic infection
Occasional (5-29%)HP:0031035
Cirrhosis
Occasional (5-29%)HP:0001394
Delayed puberty
Occasional (5-29%)HP:0000823
Dental problems
Occasional (5-29%)HP:0000164
Diabetes mellitus
Occasional (5-29%)HP:0000819
Diarrhea
Occasional (5-29%)HP:0002014
Failure to thrive in first year of life
Occasional (5-29%)HP:0001531
Feeding difficulties
Occasional (5-29%)HP:0011968
Genu valga
Occasional (5-29%)HP:0002857
Growth deficiency
Occasional (5-29%)HP:0001510
Hepatosplenomegaly
Occasional (5-29%)HP:0001433
Related Conditions
Quick Facts
- SNOMED CT
- 716682000
- UMLS CUI
- C1858990
- Fully Specified Name
- Dominant beta-thalassemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.