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Hemolytic anemia due to hexokinase deficiency

Synonyms
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5; HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY; Hexokinase deficiency hemolytic anemia; Non-spherocytic hemolytic anemia due to hexokinase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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

Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, NMSR, RP79, hexokinase, HK1
    Summary: hexokinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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