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Non-spherocytic hemolytic anemia due to hexokinase deficiency

Orpha number ORPHA90031
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
ICD-10
  • D55.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 191177007

Summary

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.


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