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Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

Disease definition

A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.

ORPHA:251380

  • Synonym(s):
    • HPFH-sickle cell disease syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D57.2
  • OMIM: 141749  142335  142470  305435  613566
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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