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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Nonspherocytic hemolytic anemia due to hexokinase deficiency


Other Names for this Disease

  • Hexokinase deficiency hemolytic anemia
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Symptoms

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What are the signs and symptoms of nonspherocytic hemolytic anemia due to hexokinase deficiency?

Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA).[1] The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin.[2][3]. However, the anemia associated with hexokinase deficiency is generally more severe.[2]

There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes.[1]
Last updated: 2/1/2013

References
  1. Rijksen G, Akkerman JW, van den Wall Bake AW, Hofstede DP, Staal GE. Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia. Blood. January 1983; 61(1):12-18.
  2. Hexokinase deficiency. European Network for Rare and Congenital Anaemias. 2013; http://www.enerca.org/anaemias/38/hexokinase-deficiency. Accessed 1/30/2013.
  3. Pyruvate kinase deficiency. MedlinePlus. February 2, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 2/1/2013.


Other Names for this Disease
  • Hexokinase deficiency hemolytic anemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.