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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.

Your Question

What causes hereditary spherocytosis? How can I learn about research on this topic? In particular I'm interested in learning more about the role of genetics and possible links to radiation or drug exposure.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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 can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have short stature, delayed sexual development, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause.[1] Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy.[2]
Last updated: 10/12/2015

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.[3] 

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.[3]
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.[3]
Last updated: 9/11/2012

Can hereditary spherocytosis be caused by radiation or drug exposure?

Currently there is no evidence to suggest that radiation or drug exposure causes hereditary spherocytosis.
Last updated: 5/3/2011

How can I learn about research involving hereditary spherocytosis?

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. You can view information about clinical trials relating to hereditary spherocytosis here. Use the study’s contact information to learn more. Check this site often for regular updates. 

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to contact PRPL and provide your telephone number in full, including area code and international dialing prefix. 

Patient Recruitment and Public Liaison Office 
NIH Clinical Center 
Bethesda, Maryland 20892-2655 
Toll-free: 1-800-411-1222 
Fax: 301-480-9793 
Web site: 

You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Last updated: 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.