Spherocytosis

What is spherocytosis?

Spherocytosis is a rare, congenital, blood disease that changes the shape of red blood cells, which carry oxygen in the blood. In this condition red blood cells are shaped like a sphere instead of having their usual donut shape.

These sphere-shaped cells are very fragile and damage easily. They only survive for between 10 and 30 days, while healthy red blood cells survive for about 120 days. This means your child’s body constantly has to produce new blood cells, which can make them anemic and lead to other health problems.

This condition can make kids feel dizzy, light-headed and fatigued.

What are the signs and symptoms of spherocytosis?

Children with spherocytosis often experience:

• Anemia

• Cholelithiasis (gallstones)

• Enlarged spleen

• Trouble catching their breath

• Weakness

• Skin and eyes having a yellowish tinge (jaundice)

How is spherocytosis diagnosed?

Doctors can diagnose spherocytosis using a blood test. Spherocytosis is usually detected as part of the newborn screening test right after a baby is born.

What causes spherocytosis?

Spherocytosis is caused by a mutation in your child’s genes, which causes red blood cells to have an unusual shape. Children inherit this trait from their parents.

How is spherocytosis treated?

When a child has spherocytosis, we monitor their condition through yearly checkups. During these checkups, we typically do blood tests to check their hemoglobin levels and evaluate any other symptoms.

We may recommend:

• Medical management for newborns - Early diagnosis helps us start treatment right away. We might treat babies who have severe jaundice with special light therapy, which gets rid of excess bilirubin (a chemical the body produces that’s causing your baby’s skin to be yellow). We may also give blood transfusions to babies who have severe anemia.

• Blood transfusions - If children have common symptoms like low hemoglobin, jaundice or anemia, we typically perform a blood transfusion.Blood transfusions are where we give your child new blood from a donor, which helps blood flow by infusing healthy new cells. Depending on the severity of the disease, some children can go years without needing a transfusion and others need several transfusions a year. A blood transfusion lasts between three and four hours.

• Surgical treatment - Most of the time, spherocytosis can be treated without surgery. However, the disease can cause a child’s spleen to become enlarged. An enlarged spleen can cause your child to feel fatigued, bleed easily or have anemia. If these symptoms become severe, doctors may recommend a splenectomy, where they surgically remove the spleen. Kids can live active lives without a spleen, but they will be at higher risk for infections. Doctors usually wait until your child is at least 6 years old before removing the spleen.