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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. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.

ORPHA:251380

Classification level: Disorder
  • Synonym(s):
    • HPFH-sickle cell disease syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D57.2
  • ICD-11: 3A51.3
  • OMIM: 141749  142335  142470  305435  613566
  • UMLS: C5190890
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

Detailed information

General public

Guidelines

Disease review articles

Disability

Genetic Testing

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

Additional information

Further information on this disease

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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.