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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hereditary spherocytosis


Other Names for this Disease
  • Congenital spherocytic hemolytic anemia
  • Congenital spherocytosis
  • Spherocytic anemia
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Inheritance


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How is hereditary spherocytosis inherited?

About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occur for the first time in the affected individual. Each child of an individual with an autosomal dominant form of hereditary spherocytosis has a 50% (1 in 2) risk to inherit the mutated gene. 

Less commonly, hereditary spherocytosis is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene in each cell have mutations. Parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Carriers of an autosomal recessive condition typically do not have signs and 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 have to condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier.

In some of the cases that result from new mutations in people with no history of the condition in their family, the inheritance pattern may be unclear.[1]
Last updated: 9/11/2012

References
  1. Hereditary spherocytosis. Genetics Home Reference. 2010; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Accessed 5/3/2011.