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Non-spherocytic hemolytic anemia due to hexokinase deficiency

Disease definition

Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.

ORPHA:90031

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D55.2
  • OMIM: 235700
  • UMLS: -
  • MeSH: -
  • GARD: 3672
  • MedDRA: -

Detailed information

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