Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal Hb
Very frequent (80-99%)HP:0011902
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Large spleen
Very frequent (80-99%)HP:0001744
Microcytic anemia
Very frequent (80-99%)HP:0001935
Paleness
Very frequent (80-99%)HP:0000980
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Abnormality of iron homeostasis
Frequent (30-79%)HP:0011031
Abnormality of the skull bones
Frequent (30-79%)HP:0000929
Decreased bone mineral density Z score
Frequent (30-79%)HP:0004349
Enlarged liver
Frequent (30-79%)HP:0002240
Impaired temperature control
Frequent (30-79%)HP:0004370
Irritability
Frequent (30-79%)HP:0000737
Low gonadotropins (secondary hypogonadism)
Frequent (30-79%)HP:0000044
Muscle weakness
Frequent (30-79%)HP:0001324
Respiratory insufficiency
Frequent (30-79%)HP:0002093
Blood clot in vein
Occasional (5-29%)HP:0004936
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Gallstones
Occasional (5-29%)HP:0001081
Hepatitis
Occasional (5-29%)HP:0012115
Low platelet count
Occasional (5-29%)HP:0001873
Open skin sore
Occasional (5-29%)HP:0200042
Hypochromic, microcytic anaemia
HP:0004840
Reduced beta/alpha synthesis ratio
HP:0011906
Related Conditions
Beta thalassemia intermedia(child)
Hemoglobin Lepore trait(child)
Delta-beta-Lepore thalassaemia(child)
Beta thalassaemia trait(child)
Delta-beta thalassemia(child)
Homozygous beta thalassemia(child)
Beta plus thalassemia(child)
Beta 0 thalassemia(child)
Sickle cell-beta-thalassemia(child)
Dominant beta-thalassemia(child)
Beta thalassemia X-linked thrombocytopenia syndrome(child)
Hemoglobin E/beta thalassemia disease(child)
Beta thalassemia trait in mother complicating pregnancy(child)
Beta thalassemia major in mother complicating pregnancy(child)
Hemoglobin D/beta thalassemia disease(child)
Hemoglobin C/beta thalassemia disease(child)
Thalassemia(parent)
Quick Facts
- SNOMED CT
- 65959000
- UMLS CUI
- C0005283
- Fully Specified Name
- Beta thalassemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
- Known Treatments
- 1
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.