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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
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

I have hereditary spherocytosis and I have a son that has it too. He had a splenectomy when he was almost 3 and he is 7 now. He is on penicillin every day. I have been told by his doctor (not a hematologist) that he doesn't have to be on the medicine anymore. Is that correct? Also, is there a chance my other unaffected kids can give this disorder to their kids?

Our Answer

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

What are the current recommendations regarding post-splenectomy antibiotic prophylaxis in children?

The ideal duration of antibiotic prophylaxis for children is not clear. Recommendations for daily prophylaxis differ among different authorities.[1] Guidelines in the United States suggest relatively limited courses of post-splenectomy prophylaxis (up to five years of age and for at least one year after splenectomy), whereas British guidelines recommend lifelong penicillin prophylaxis in high-risk individuals (defined as those less than 16 or more than 50 years of age, and those with an inadequate response to pneumococcal vaccination).[1]

The American Academy of Pediatrics Committee on Infectious Diseases published a policy statement in 2000 which included the following information:[2]
  • Antibiotic prophylaxis is recommended for all children with sickle cell disease (SCD) and functional or anatomic asplenia, regardless of whether they have received pneumococcal immunizations.
  • Although the efficacy of penicillin prophylaxis in children with functional or anatomic asplenia other than SCD has not been studied, it is reasonable to use prophylaxis in the same regimen.
  • Antibiotic prophylaxis should be begun before 2 months of age or as soon as SCD or asplenia occurs or is otherwise recognized or suggested by screening procedures.
  • Oral administration of penicillin V potassium is recommended at a dosage of 125 mg twice a day until 3 years of age and at a dosage of 250 mg twice a day after 3 years of age.
  • Children who have not experienced invasive pneumococcal infection and have received recommended pneumococcal immunizations may discontinue penicillin prophylaxis after 5 years of age.[2]

It has also been stated that individuals in whom prophylaxis is being discontinued should have well-established, regular medical care, and understand the warning symptoms and signs, as well as the management, of possible post-splenectomy sepsis. Individuals with highly compromised immune systems, and survivors of pneumococcal post-splenectomy sepsis, are reasonable candidates for prophylaxis until age 18, or even for life.[1]

Individuals looking for specific medical advice for themselves or family members should speak with their health care provider.

Last updated: 9/11/2012

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 my unaffected children pass hereditary spherocytosis on to their children?

The offspring of an individual affected with an autosomal dominant (AD) form of hereditary spherocytosis has a 50% (1 in 2) risk to inherit the same mutation in the disease-causing gene. If a child of an affected parent with AD hereditary spherocytosis does not inherit the mutation, that child will not pass the mutation on to his/her children because it is not present in his/her genes.

The offspring of an individual with an autosomal recessive (AR) form of hereditary spherocytosis will definitely be a carrier of the condition. A carrier of an AR condition is generally only at risk to have an affected child if his/her partner is also a carrier for the condition, having a mutation in the same disease-causing gene. When 2 carriers of an AR condition have children, each child has a 25% (1 in 4) risk to be affected. If a carrier has a child with an individual who is not a carrier, that child will not be affected.
Last updated: 9/11/2012

References
  • Mark S Pasternack. Prevention of sepsis in the asplenic patient. UpToDate. Waltham, MA: UpToDate; 2012;
  • American Academy of Pediatrics. Committee on Infectious Diseases. Policy statement: recommendations for the prevention of pneumococcal infections, including the use of pneumococcal conjugate vaccine (Prevnar), pneumococcal polysaccharide vaccine, and antibiotic prophylaxis. Pediatrics. August 2000; 106(2 Pt 1):362-366.
  • 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.