dominant beta-thalassemia
MeSH: C565834ORPHA: 231226
Overview
Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with dominant beta-thalassemia, sourced from HPO and Orphanet clinical annotations.
Persistence of hemoglobin FReduced hemoglobin APallorHypersplenismExtramedullary hematopoiesisHypochromic microcytic anemiaAnisocytosisDecreased mean corpuscular volumeDecreased mean corpuscular hemoglobin concentrationAbnormality of the dentitionIrritabilityDiabetes mellitusHypothyroidismDelayed pubertyHypoparathyroidismOsteoporosisJaundiceHyperpigmentation of the skinCirrhosisHepatic fibrosisHepatosplenomegalyGrowth delayFailure to thrive in infancySplenomegalyRecurrent feverDiarrheaDyspneaArthralgiaGenu valgumVenous thrombosisBowing of the long bonesHypoplasia of the musculatureAbnormality of iron homeostasisAbnormal skeletal morphologyFeeding difficultiesChronic infectionHypopituitarismSkin ulcerChronic hepatitisUpslanted palpebral fissureAdrenal insufficiencyHepatocellular carcinomaDilated cardiomyopathyHigh-output congestive heart failureFrontal bossingDepressed nasal bridgeMalar prominenceArrhythmiaHyperplasia of the maxilla
Classification & Codes
MeSH Code
C565834Orphanet Code
ORPHA:231226dominant beta-thalassemia
| MeSH | C565834 |
| Orphanet | ORPHA:231226 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO