Hereditary Spherocytosis

Spherocytosis, in most cases, is an inherited disease that changes the shape of and decreases the life of red blood cells. This destruction of the red blood cells leads to anemia.

The shape of a normal red blood cell resembles a disk. Normal red blood cells are flexible and easily change shape to move smoothly through the small blood vessels between organs of the body.

A person with spherocytosis has red blood cells that are very round and have difficulty changing this shape. The lack of ability to change shapes makes moving through the small blood vessels difficult. Therefore, the red blood cells stay in the spleen longer than normal. This lengthy stay in the spleen damages the cell membranes. Eventually, the spleen will destroy these abnormal red blood cells.

A number of different genetic defects may cause spherocytosis, all of which have in common the production of a faulty protein component of the cell membrane. The faulty component leads to the weakness of the red blood cell wall.

In addition to being fragile, these red blood cells are less resistant to stress and rupture easily.

In some rare cases, spherocytosis is not inherited; the cause of this blood disease is considered to be a spontaneous mutation of the gene. Infection, fever and stress can stimulate the spleen to destroy more red blood cells than usual. If this occurs, the skin and whites of the eyes will turn yellow because the hemoglobin level will drop and the bilirubin level will rise. Bilirubin is a chemical made when red blood cells are destroyed.

For many patients, spherocytosis is a mild disorder with very few symptoms. Other patients have more frequent and serious symptoms. The symptoms that can be associated with anemia and spherocytosis are: 

  • Paleness
  • Yellow color of the skin or eyes, called jaundice
  • Stomach pain
  • Shortness of breath
  • Lack of energy
  • Lack of appetite
  • Irritability in children

When children with hereditary spherocytosis have fever, they can experience a worsening of their anemia and can exhibit signs or symptoms of fatigue, pallor and yellow eyes / skin. 

In more severe cases, some patients may:

  • Develop gallstones
  • Experience aplastic crises (severe decrease in red blood cell production, called anemia) caused by a viral infection

Doctors have several ways to test for spherocytosis, including blood tests and examination of the spleen.

Due to the hereditary nature of spherocytosis, parents with a family history of spherocytosis should have their children tested.

Some babies with hereditary spherocystosis can develop jaundice, often at birth.

  • There is no simple cure for hereditary spherocytosis.
  • Young children (up to 5 years of age) may be prescribed folic acid supplements.
  • Blood transfusions may help with severe anemia.
  • Surgical removal of the spleen (splenectomy) in children 5 years of age or older may be required for severe cases. This does not cure that patient of spherocytosis; rather it allows red blood cells to live longer. Without a spleen, a person has an increased risk for some serious infections. Therefore, patients who have their spleen removed need to take penicillin (or another antibiotic) for the rest of their lives. Several special immunizations (pneumococcal and meningococcal) are also required to help prevent some infections.
  • A fever of higher than 101.5° F
  • Spleen was removed and skin is pale and/or yellow or if eyes are yellow
  • Spleen is present and skin is more pale and/or yellow than usual or if eyes are more yellow than normal
  • Is having difficulty taking folic acid if prescribed
  • Child is unusually tired or fussy

Last Updated 03/2016