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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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Your Question

Is there research that demonstrates the long term effects of removal of spleen and gallbladder in children with hereditary spherocytosis? How do these procedures affect their future health?  What are the chances of this disease being passed to my child's future children?

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 long term effects of removal of spleen and gallbladder in children with hereditary spherocytosis?

Overall, individuals with hereditary spherocytosis (HS) who have had their spleen removed showed an improvement in quality of life.[1].

Complete removal of the spleen (splenectomy) cures almost all patients with hereditary spherocytosis.[2]  The spleen, however, is important in fighting infection.  Individuals, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis).  Most septic infections have been observed in children whose spleens were removed in the first years of life, although older children and adults also are susceptible.[3]   Subtotal (partial) splenectomy is an effective alternative to total splenectomy; decreasing (but not eliminating) hemolysis (breakdown of red blood cells) and reducing the need for blood transfusions, while maintaining spleen function. [2][1] Subtotal splenectomy, however, is not effective in preventing gallstone formation.[1]
 
Gallbladder removal (cholecystectomy) is a procedure that has been shown to help prevent biliary tract disease and, in some patients with mild HS, helps avoid the need for splenectomy.  Removal of the gallbladder has not been known to cause any long-term adverse effects, aside from occasional diarrhea.[4]
Last updated: 2/27/2012

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.[5]
Last updated: 9/11/2012

References