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Rh deficiency syndrome

Disease definition

A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.

ORPHA:71275

Classification level: Disorder
  • Synonym(s):
    • Rh-null syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: No data available
  • ICD-10: D58.8
  • ICD-11: 3A10.Y
  • OMIM: 268150  617970
  • UMLS: C0272052
  • MeSH: -
  • GARD: 12916
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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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.