beta-thalassemia major

ORPHA: 231214

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions

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 beta-thalassemia major, sourced from HPO and Orphanet clinical annotations.

PallorAnisopoikilocytosisHypochromic microcytic anemiaAnemia of inadequate productionPersistence of hemoglobin FReduced hemoglobin ADecreased mean corpuscular volumeDecreased mean corpuscular hemoglobin concentrationAbnormality of the dentitionOsteoporosisHyperpigmentation of the skinGrowth delayFailure to thrive in infancySplenomegalyHypersplenismExtramedullary hematopoiesisDyspneaHepatomegalyGenu valgumBowing of the long bonesHypoplasia of the musculatureAbnormality of iron homeostasisAbnormal skeletal morphologyFeeding difficultiesUpslanted palpebral fissureIrritabilityDiabetes mellitusHypothyroidismDelayed pubertyHypoparathyroidismJaundiceCirrhosisHepatic fibrosisHepatosplenomegalyDilated cardiomyopathyHigh-output congestive heart failureRecurrent feverFrontal bossingDiarrheaArthralgiaVenous thrombosisDepressed nasal bridgeMalar prominenceChronic infectionHypopituitarismSkin ulcerHyperplasia of the maxillaAdrenal insufficiencyHepatocellular carcinomaArrhythmia

Classification & Codes

Orphanet Code

ORPHA:231214

beta-thalassemia major

Orphanet	`ORPHA:231214`
Treatments	0 drug(s)
Symptoms on record	50 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO