What is hereditary spherocytosis?
Hereditary spherocytosis is an inherited blood disorder. It occurs due to a problem with the red blood cells (RBC). Instead of being disc-shaped, the cells are round like a sphere.
These red blood cells (called spherocytes) are more fragile than disc-shaped red blood cells. They break down faster and more easily than normal red blood cells. This breakdown causes anemia (a lack of red blood cells in the body) and other medical problems. Anemia caused by the breakdown of red blood cells is called hemolytic anemia.
Symptoms can range from mild to severe. Treatments can help with symptoms.
What are the signs and symptoms of hereditary spherocytosis?
Symptoms of hereditary spherocytosis (sfir-oh-sye-TOE-sis) can vary and start at any age. Most people with this condition have mild to moderate anemia. Anemia can cause:
- pale skin
- a racing heartbeat
- difficulty breathing
- growing problems
When red blood cells break down, they release a colored substance called bilirubin. Many red blood cells are broken down in hereditary spherocytosis, so there is 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 jaundice
Some people may also have:
low folate levels because the body uses more than normal to replace broken red blood cells an enlarged spleen because it is working harder than normal to break down and filter red blood cells aplastic crisis, which is when too few red blood cells are produced (this is usually due to an infection)
Who gets hereditary spherocytosis?
People usually inherit hereditary spherocytosis from their parents. Talking with 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 do it:
- ask about symptoms
- do an exam
- ask about similar symptoms in family members
- order blood tests
- possibly test for genes causing the condition
How is hereditary spherocytosis treated?
Treatment of hereditary spherocytosis depends on the symptoms. Some people never need treatment.
When treatments are done, they may include:
- folic acid supplements
- remove part or all of the spleen to slow the breakdown of red blood cells
- gallbladder removal to get rid of gallstones
- blood transfusions to deliver healthy red blood cells 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 do not cure the condition, but they do control symptoms.
Some infections can be very serious in young children who have had their spleens removed. Therefore, they will need certain vaccines (shots) and special care if they have a fever.