Nonspherocytic hemolytic anemia due to hexokinase deficiency
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.
hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic
Last updated: 2/1/2013
- 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.
- 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.
- Hexokinase deficiency. European Network for Rare and Congenital Anaemias. 2013; http://www.enerca.org/anaemias/38/hexokinase-deficiency. Accessed 1/30/2013.
- 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.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.