Spherocytosis

Hereditary spherocytosis is a disorder of the red blood cells.  When normal red blood cells are looked at under a microscope, they look somewhat like a donut. 

When people have spherocytosis, some of their red blood cells look more like spheres or spherocytes (balls).  The membranes around these red blood cells are not normal.

 

Spherocytes are more fragile than normal red blood cells.  Fragile spherocytes are destroyed more quickly than normal cells.  Because of this, we keep track of your child’s volume of red blood cells.  This is done through blood tests called hemoglobin and hematocrit.  Reticulocytes are new red blood cells that are found in the bloodstream.  The reticulocyte count (retic count) shows how many red cells are being destroyed.  It also tells us how quickly red cells are being destroyed.  The test looks at how many new cells are being formed to replace the ones being destroyed.

 

If the amount of your child’s red blood cells becomes too low, your child will become anemic.  When this happens, your child may look pale or be more tired.  Your child’s skin and often the whites of his eyes may become yellow.  When the yellow color occurs, it is called jaundice.  Red blood cells are broken down in the spleen.  If the spleen is breaking down a lot of red blood cells or spherocytes, the spleen may become enlarged.  You may be able to see or feel your child’s enlarged spleen.

 

Aplastic Crises

 

Sometimes with viral infections, the bone marrow (which makes red blood cells) may shut down.  If this happens, new red blood cells may not be produced.  This is referred to as an “aplastic crisis.”  This can be very dangerous.  When this occurs, your child will need to be observed and checked very closely.  The increased rate of destroyed red cells is the hallmark of hereditary spherocytosis.  Persons who have this disorder are more likely to get gall stones from the breakdown products of red blood cells.  Your doctor may suggest doing an ultrasound of the gall bladder if your child is having abdominal pain that recurs.  The pain may be a sign of gallstones.

 

Treatment of spherocytosis depends on how much your child is affected.  All children with spherocytosis should take folic acid.  Folic acid is a vitamin that is used in making red blood cells.  Most parents think that one folic acid tablet a day really helps to improve their child’s health.  Your doctor may need to limit the level of your child’s activity.  This will depend on the extent of the disorder in your child.  Discuss the need to restrict your child’s activity with the doctor.

 

Children with moderate or severe spherocytosis may need to have their spleen removed.  This is called a splenectomy.  If this is needed, it is most often done after five years of age.  Reasons your child may need to have their spleen removed include:

• significant anemia
• significant enlargement of the spleen
• repeated aplastic crises
• frequent blood transfusions

Your doctor will discuss this further with you.

 

Spherocytosis is hereditary.  Therefore, other people in your family are at risk for having it.  You may want to talk to your doctor about whether other family members should be tested for spherocytosis.

 

Please feel free to call with questions at anytime.

Dr. Diamond (608) 263-6200

 

The information provided should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Any duplication or distribution of the information contained herein is strictly prohibited.

Last Updated: 06/19/2009

Copyright © 05/28/2009 University of Wisconsin Hospitals and Clinics Authority. All rights reserved. Produced by the Department of Nursing. UWH #6425

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