Non-spherocytic hemolytic anemia due to hexokinase deficiency

Orpha code: 90031OMIM code: 235700

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 <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R.

Disease data
Classification

Disease

ORPHA code
90031
OMIM code
235700
ICD10 code
D55.2
ICD11 code
3A10.Y

No additional description.

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