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Spherocytosis, Hereditary

What is 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 looks like a disk. Normal red blood cells are flexible and change shape with ease 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 trouble changing this shape. This makes moving through the small blood vessels hard. So, the red blood cells stay in the spleen longer than normal. This lengthy stay in the spleen harms the cell membranes. Eventually, the spleen destroys these abnormal red blood cells.

Causes of Spherocytosis

A number of genetic defects may cause spherocytosis. These defects all produce a faulty protein component of the cell membrane. The faulty component leads to the weakness of the red blood cell wall. These red blood cells are also less resistant to stress and rupture easily.

In some rare cases, spherocytosis is not inherited; the cause of this blood disease is thought to be a spontaneous mutation of the gene. Infection, fever and stress can cause the spleen to destroy more red blood cells than normal. 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.

Signs and Symptoms of Spherocytosis

For many patients, spherocytosis is a mild disorder with very few symptoms. Other patients have more frequent and severe symptoms. The symptoms that can be linked to 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, their anemia can be worse. This can lead to signs or symptoms of fatigue, pallor and yellow eyes / skin.

In more severe cases, some patients may:

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

Diagnosis of Spherocytosis

Doctors have several ways to test for spherocytosis, such as blood tests and checking the spleen.

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

Some babies with hereditary spherocytosis can have jaundice, often at birth.

Treatment for Spherocytosis

  • 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.
  • Surgery to remove the spleen (splenectomy) in children 5 years of age or older may be needed 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 some other antibiotic) for the rest of their lives. Several special immunizations (pneumococcal and meningococcal) are also required to help prevent some infections.

Call Your Child's Doctor If:

  • Has a fever 101° F or above
  • 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 normal or if eyes are more yellow than normal
  • Is having problems taking folic acid if prescribed
  • Child is more tired or fussy than normal

Last Updated 01/2019