Non-spherocytic hemolytic anemia due to hexokinase deficiency

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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