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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.

ORPHA:330032

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: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

Detailed information

Guidelines

Disability

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.