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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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Inheritance


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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

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.