Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary spherocytosis


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

Inheritance

Newline Maker

How is hereditary spherocytosis inherited?

About 75% of cases of hereditary spherocytosis are inherited in an autosomal dominant manner.[1] This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Less commonly, hereditary spherocytosis is inherited in an autosomal recessive manner.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
In some of the cases that result from new mutations in people with no family history of the condition, the inheritance pattern may be unclear.[1]
Last updated: 4/26/2016

References
  1. Hereditary spherocytosis. Genetics Home Reference. September, 2013; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis.
  2. Hereditary spherocytosis. Genetics Home Reference. 2010; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis.


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