Hereditary Spherocytosis
What Is Hereditary Spherocytosis?
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 called hemolytic anemia.
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 cause:
- pale skin
- tiredness
- a fast heartbeat
- shortness of breath
- growth problems
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
- gallstones
Some people also might have:
- low folate levels because the body uses more of it than usual to replace the broken down RBCs
- 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 an infection)
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:
- ask about symptoms
- do an exam
- ask about similar symptoms in family members
- order blood tests
- possibly test for genes that cause the condition
How Is Hereditary Spherocytosis Treated?
Treatment for hereditary spherocytosis depends on the symptoms. Some people never need treatment.
When treatments are done, they may include:
- folic acid supplements
- removing some or all of the spleen to slow the breakdown of red blood cells
- removing the gallbladder to get rid of gallstones
- blood transfusions to deliver healthy RBCs to the body
Babies with severe symptoms may need:
- ultraviolet (UV) light (phototherapy) for jaundice
- an exchange transfusion for very severe anemia or jaundice to replace the baby's blood with healthy donated blood
These treatments don't cure the condition, but they do manage symptoms.
Some infections can be very serious in young children whose spleen was removed. So they'll need certain vaccines (shots) and special care if they get a fever.
How Can Parents Help?
Some children with hereditary spherocytosis don't need any medical treatments. If treatment is needed, you can help your child get the best medical care. Be sure to:
- Take your child to all medical appointments.
- Give any vitamin supplements or medicines as recommended by the doctors.
- Learn about hereditary spherocytosis with your child. Your doctors can help you find reliable information.