Orphanet: Hemoglobin H disease

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Hemoglobin H disease

Disease definition

An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia.


Classification level: Subtype of disorder
  • Synonym(s):
    • Alpha-thalassemia intermedia
    • HbH disease
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D56.0
  • ICD-11: 3A50.02
  • OMIM: 613978
  • UMLS: C3161174
  • MeSH: -
  • GARD: -
  • MedDRA: 10063435

Detailed information

General public


Disease review articles

Genetic Testing

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