Hereditary spherocytosis is an inherited blood
disorder. It happens because of a problem with the red blood cells (RBCs). Instead
of being shaped like a disk, the cells are round like a sphere.
These red blood cells (called spherocytes) are more fragile than
disk-shaped RBCs. They break down faster and more easily than normal RBCs. This breakdown
leads to anemia (not enough RBCs
in the body) and other medical problems. Anemia caused by breaking down of RBCs is
Symptoms may range from mild to severe. Treatments can help with symptoms.
What Are the Signs & Symptoms of Hereditary Spherocytosis?
Symptoms of hereditary spherocytosis (sfir-oh-sye-TOE-sis) can vary and start at
any age. Most people with the condition have a mild to moderate anemia. Anemia can
a fast heartbeat
shortness of breath
When RBCs break down, they release a colored substance called bilirubin.
Many RBCs break down in hereditary spherocytosis, so there's more bilirubin in the
body than normal. The higher level of bilirubin can lead to:
yellowing of the whites of the eyes and skin, called
Some people also might have:
low folate levels because the body uses more of it than usual to replace the broken
an enlarged spleen
because it's working harder than normal to break down and filter RBCs
aplastic crisis, which is when very few RBCs are made (this usually is due to
Who Gets Hereditary Spherocytosis?
People usually inherit hereditary spherocytosis from their parents. Talking to
a genetic counselor
can help someone with the condition understand how it runs in families.
How Is Hereditary Spherocytosis Diagnosed?
If someone has symptoms of hereditary spherocytosis, such as anemia, doctors will
look for the cause. They will: