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Hemoglobin Lepore-beta-thalassemia syndrome

Disease definition

A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.


Classification level: Disorder
  • Synonym(s):
    • HbLepore-beta-thalassemia syndrome
    • Lepore-beta-thalassemia syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D56.8
  • OMIM: -
  • UMLS: C5679855
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information



Genetic Testing

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