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Nonspherocytic hemolytic anemia due to hexokinase deficiency

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I was diagnosed with this condition 25 years ago. I understand what the anemia is and how it affects my body but have not managed to find information about hexokinase deficiency in terms which I would understand. Can you give me any information about this please?

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What is nonspherocytic hemolytic anemia due to hexokinase deficiency?

Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy.[1] Approximately 20 cases of this condition have been described to date.[2] Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe.[3] Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.[4] It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner.[2][1] Treatment may include red cell transfusions for those with severe anemia.[3]
Last updated: 2/1/2013

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

Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA).[4] 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.[3][5]. However, the anemia associated with hexokinase deficiency is generally more severe.[3]

There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes.[4]
Last updated: 2/1/2013

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][4] 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.[6] When red blood cells cannot be replaced faster than they destroy themselves, anemia results.[6]
Last updated: 2/1/2013

How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited?

Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner.[1] This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The parents of an individual with an autosomal recessive condition each have one mutated copy of the gene in each cell and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be an unaffected carrier like each parent, and a 25% risk to be unaffected and have 2 normal copies of the gene.
Last updated: 2/1/2013

How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated?

When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified.[6]
Last updated: 2/1/2013

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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  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. Karen M.K. de Vooght, Wouter W. van Solinge, Annet C. van Wesel, Sabina Kersting and Richard van Wijk. First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis. Haematologica. September 2009; 94(9):1203–1210. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2738711/. Accessed 1/29/2013.
  3. Hexokinase deficiency. European Network for Rare and Congenital Anaemias. 2013; http://www.enerca.org/anaemias/38/hexokinase-deficiency. Accessed 1/30/2013.
  4. 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.
  5. Pyruvate kinase deficiency. MedlinePlus. February 2, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 2/1/2013.
  6. Anemia, Hereditary Nonspherocytic Hemolytic. NORD. July 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/82/viewAbstract. Accessed 1/30/2013.