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Nonspherocytic hemolytic anemia due to hexokinase deficiency

Other Names for this Disease
  • Hexokinase deficiency hemolytic anemia
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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

  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; Accessed 1/30/2013.
  3. Pyruvate kinase deficiency. MedlinePlus. February 2, 2012; Accessed 2/1/2013.