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Hemoglobin E disease

Disease definition

Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.

ORPHA:2133

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D58.2
  • ICD-11: 3A51.A
  • OMIM: -
  • UMLS: C0238159
  • MeSH: -
  • GARD: 2641
  • MedDRA: 10053215

  A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Italiano (2004)

Detailed information

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.