Orphanet: Sickle cell hemoglobin E disease syndrome

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Sickle cell-hemoglobin E disease syndrome

Disease definition

A rare, genetic hemoglobinopathy usually characterized by mild hemolysis without vaso-occlusive complications or abnormality of red blood cell morphology. However, more severe manifestations have also been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis.


Classification level: Disorder
  • Synonym(s):
    • HbSE disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D57.2
  • OMIM: -
  • UMLS: C0272085
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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