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Beta-thalassemia major

Disease definition

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.

ORPHA:231214

  • Synonym(s):
    • Cooley anemia
    • Mediterranean anemia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D56.1
  • OMIM: 613985
  • UMLS: C0002875
  • MeSH: -
  • GARD: -
  • MedDRA: -

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