Orphanet: Hereditary persistence of fetal hemoglobin beta thalassemia syndrome

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Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Disease definition

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.


Classification level: Disorder
  • Synonym(s):
    • HPFH-beta-thalassemia syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D56.4
  • OMIM: 141749  142335  142470  305435  613566
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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