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Nonspherocytic hemolytic anemia due to hexokinase deficiency

Other Names for this Disease
  • Hexokinase deficiency hemolytic anemia
More Names
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Overview


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]


References

  1. Nonspherocytic hemolytic anemia due to hexokinase deficiency. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90031. Accessed January 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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2738711/. Accessed January 29, 2013.
  3. Hexokinase deficiency. European Network for Rare and Congenital Anaemias. http://www.enerca.org/anaemias/38/hexokinase-deficiency. Accessed January 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.
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  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nonspherocytic hemolytic anemia due to hexokinase deficiency. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Nonspherocytic hemolytic anemia due to hexokinase deficiency. Click on the link to go to OMIM and review these resources.