Hereditary Spherocytosis

Written by Carmella Wint | Published on August 15, 2012
Medically Reviewed by George Krucik, MD

What Is Hereditary Spherocytosis?

Hereditary spherocytosis is a disorder of the membrane (the surface) of your red blood cell that causes your red blood cells to be shaped like spheres instead of flat discs.

Spherocytosis causes red blood cells tohave difficulty passing through your spleen. In a healthy body, the spleen’s job is to clean the blood of bacteria and dead tissue. For someone with hereditary spherocytosis, the cell membrane defect results in red blood cells that have a round—or spherical—appearance.

The irregular shape of the red blood cells can also cause them to break down and die before they should. This breakdown of blood cells is called hemolytic anemia. A normal red blood cell can live for up to 120 days. A red blood cell with hereditary spherocytosis might live for as few as 10 to 30 days.

What Causes This Disorder?

Hereditary spherocytosis is caused by a genetic defect. If you have a family history of this disorder, your chances of developing it are higher than someone who does not. While people of any race can have hereditary spherocytosis, it is most common in those of northern European descent.

When to See Your Doctor

There are a number of symptoms you should watch for if you suspect that you have spherocytosis. You might develop jaundice. This is a condition that causes the skin and eyes to turn slightly yellow due to a buildup of bilirubin in the blood. Bilirubin is a pigment released when red blood cells break down.

You may also appear to be paler than normal. Other common symptoms of hereditary spherocytosis include:

  • fatigue
  • shortness of breath
  • irritability
  • muscle weakness
  • accelerated heart rate

How Hereditary Spherocytosis Is Diagnosed

Your doctor will ask you about your family and medical history. He or she will also want to know about the symptoms you’ve been experiencing. A physical exam may be performed as well. This will involve your doctor checking for an enlarged spleen, which is usually done by simply pressing on your abdomen.

It’s likely that your doctor will also draw your blood for analysis. A complete blood count test will check your red blood cell levels and the number of immature red blood cells you have. A high number of immature red blood cells can indicate hereditary spherocytosis. The shape of the red blood cells will also be indicative of the disorder.

Your blood might be viewed under a microscope, which lets your doctor see the shape of your cells. He or she may also order tests that check your bilirubin levels.

Treatment Options

Doctors can cure the symptoms of hereditary spherocytosis by removing your spleen. Some mild cases can be treated without surgery. The severity of your symptoms will determine which course of treatment you receive.


A splenectomy is the most common course of treatment for hereditary spherocytosis. Because your red blood cells are damaged in the spleen, removal of the spleen allows doctors to cure your anemia. Your red blood cells will still have their spherical shape but will live longer.

Other Treatment Methods

Not everyone with this condition needs to have his or her spleen removed. Your doctor might think less invasive measures are better suited to your case. For example, surgery is not recommended for children under the age of 5, so your child’s doctor may put him or her on a folic acid supplement. Folate is a form of B vitamin that your body needs to produce red blood cells.

If you exhibit severe jaundice, your doctor might treat you with light therapy, also called phototherapy. If your doctor feels that light therapy is best for you, a blue light will be shone onto your skin.

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