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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.

Overview

What is hereditary spherocytosis?

What causes hereditary spherocytosis?

How is hereditary spherocytosis inherited?

What is hereditary spherocytosis?

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen.[1] The condition is caused by mutations in any of several genes, including the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant pattern, but may also be inherited in an autosomal recessive pattern.[2] Different types of hereditary spherocytosis exist and are distinguished by their severity and genetic cause.[2]  Depending on severity, treatment may involve folic acid replacement, red cell transfusions, splenectomy, and cholecystectomy.[1]
Last updated: 9/11/2012

What causes hereditary spherocytosis?

Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in the blood circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of this condition.[2] 

Mutations in the ANK1 gene are responsible for about half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis account for a smaller percentage of cases and include the EPB42, SLC4A1, SPTA1, and SPTB genes.[2]
Last updated: 9/10/2012

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.[2]
Last updated: 9/11/2012

References
  1. Dugdale DC, Mason JR. Congenital spherocytic anemia. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000530.htm. Accessed 5/3/2011.
  2. Hereditary spherocytosis. Genetics Home Reference. 2010; http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Accessed 5/3/2011.


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.