beta thalassemia

MeSH: D017086ORPHA: 848

Overview

thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin

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, sourced from HPO and Orphanet clinical annotations.

Abnormality of the skeletal systemPallorSplenomegalyAnemiaMicrocytic anemiaAbnormal hemoglobinHypogonadotropic hypogonadismIrritabilityAbnormal skull morphologyMuscle weaknessRespiratory insufficiencyHepatomegalyReduced bone mineral densityAbnormality of temperature regulationAbnormality of iron homeostasisCholelithiasisHypertrophic cardiomyopathyThrombocytopeniaVenous thrombosisHepatitisSkin ulcer

Classification & Codes

MeSH Code

D017086

Orphanet Code

ORPHA:848
beta thalassemia
MeSHD017086
OrphanetORPHA:848
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO