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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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Cause


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What causes nonspherocytic hemolytic anemia due to hexokinase deficiency?

Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase.[1][2] This enzyme plays an important role in the chemical processes involved in the breakdown of sugar molecules (glycolysis). Red blood cells depend on this process for energy; if an enzyme is defective in any one of the stages, the red blood cell cannot function properly and hemolysis takes place.[3] When red blood cells cannot be replaced faster than they destroy themselves, anemia results.[3]
Last updated: 2/1/2013

References
  1. Nonspherocytic hemolytic anemia due to hexokinase deficiency. Orphanet. December 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90031. Accessed 1/30/2013.
  2. 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.
  3. Anemia, Hereditary Nonspherocytic Hemolytic. NORD. July 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/82/viewAbstract. Accessed 1/30/2013.