Children's Hospital Colorado
Pediatric Surgery

Hereditary Spherocytosis

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What is hereditary spherocytosis?

Hereditary spherocytosis is a condition where the cell membrane (outer wall) of red blood cells is weak. As a result, red blood cells are rounder than they should be and have a shorter lifespan.

Normal red blood cells are flexible, flat and disc-shaped, allowing them to move through smaller blood vessels to deliver oxygen throughout the body. The shape of red blood cells in hereditary spherocytosis are rounder, more sphere-shaped, making it harder for them to fit through blood vessels as they should.

The abnormal sphere-shaped red blood cells are destroyed by the spleen (an organ in the body that helps with immune function and red blood cell maintenance). This condition is called hemolytic anemia. In severe cases, hemolytic anemia can result in less oxygen getting to cells, tissues and organs in the body.

What causes hereditary spherocytosis?

Hereditary spherocytosis is caused by a mutation (change) of one or more genes responsible for formation of healthy red blood cells. These gene changes are usually inherited (passed down from parents to children). Rarely, hereditary spherocytosis is caused by a new, random genetic mutation.

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