Hereditary Spherocytosis

Spherocytosis, in most cases, is an inherited disease that destroys red blood cells. This destruction of the red blood cells causes anemia.

The shape of a normal red blood cell resembles a disk. Normal red blood cells easily change shape to move effectively 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.

Spherocytosis can be caused by a number of different genetic defects, 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.

Spherocytosis is frequently a mild disorder with very few symptoms. The symptoms associated with anemia and spherocytosis are:

  • Paleness or yellow color of the skin or eyes
  • Stomach pain
  • Shortness of breath
  • Lack of energy
  • Lack of appetite
  • Irritability in children
  • Fever
  • Vomiting

In more severe cases, patients may:

  • Develop gallstones
  • Experience aplastic crises (severe decrease in red blood cell production) 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.

  • Young children (up to 5 years of age) should take folic acid supplements.
  • Blood transfusions may help with severe anemia.
  • Surgical removal of the spleen (splenectomy) in children 5 years of age or older. 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 greater 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
  • Difficulty taking prescribed medication

Last Updated 12/2013