Hereditary spherocytosis (HS) is a disorder of the membrane (surface) of your red blood cells. It causes your red blood cells to be shaped like spheres instead of flat discs.
In a healthy body, the spleen’s job is to clean the blood of bacteria and dead tissue. Spherocytosis makes it difficult for red blood cells to pass through your spleen. This is due to their shape.
The irregular shape of the red blood cells can also cause them to break down and die before they should. This breakdown process is called hemolytic anemia. A normal red blood cell can live for up to 120 days. A red blood cell with hereditary spherocytosis might live for as few as 10 to 30 days.
Symptoms of hereditary spherocytosis vary depending on the severity of the disease. Many people with HS have mild or no anemia, and are often unaware they have the disease.
Spherocytosis causes your red blood cells to break down faster than healthy ones. Whenever a blood cell breaks down, the pigment bilirubin is released. If your red blood cells are breaking down too frequently, you’ll have too much bilirubin in your bloodstream.
An excess of bilirubin can cause jaundice and gallstones. Jaundice causes the skin and eyes to turn yellowish or brownish. Gallstones develop in your gallbladder when too much bilirubin gets into your bile.
You may not have any symptoms of gallstones until they cause a blockage. Symptoms may include:
- sudden pain in your upper right abdomen, or below your breastbone
- pain between your shoulder blades
- pain in your right shoulder
You may also appear paler than normal. Other common symptoms of hereditary spherocytosis include:
- shortness of breath
- dizziness or lightheadedness
- muscle weakness
- increased heart rate
Anemia can be dangerous, so it’s important to understand the signs and symptoms, which can include:
- shortness of breath
- extreme fatigue
- sensations of dizziness or heart palpitations
Infants may show slightly different signs of anemia. Call your child’s pediatrician if you notice your infant is:
- restless or irritable
- having difficulty feeding
- sleeping too much
The onset of puberty may be delayed in some children who have HS. Some children may also experience abdominal discomfort and have an enlarged spleen (splenomegaly).
Hereditary spherocytosis is caused by a genetic defect. If you have a family history of this disorder, your chances of developing it are higher than someone who does not. People of any race can have hereditary spherocytosis, but it’s most common in those of Northern European descent.
Your doctor will ask you about the symptoms you’ve been experiencing. They’ll also want to know about your family and medical history.
Your doctor will perform a physical exam. This will involve checking for an enlarged spleen, which is usually done by palpating different regions of your abdomen.
It’s likely your doctor will also draw your blood for analysis. A complete blood count test will check your red blood cell levels and the number of immature red blood cells you have. A high number of immature red blood cells can indicate hereditary spherocytosis.
Your doctor might view your blood under a microscope. This allows them to see the shape of your cells. The shape of red blood cells can also determine if you have the disorder.
Your doctor may also order tests that check your bilirubin levels.
You can develop gallstones if your spleen is not removed. Gallstones are hard, pebble-like deposits that form inside your gallbladder. They can range from the size of a grain of salt to a golf ball. They can cause severe abdominal pain, jaundice, nausea, and vomiting.
Surgery or medications can get rid of the gallstones, but it’s possible you’ll develop them again. In severe cases, the gallbladder is removed. Most people don’t have additional problems after this.
Removing the spleen (splenectomy) can solve the symptoms of HS, but it can lead to other complications. The spleen filters out bacteria in the body, so removing it can lead to an increased risk of certain infections. To help decrease this risk, your doctor will give you some immunizations (including the pneumococcal vaccine and the meningococcal vaccine) before removing your spleen.
After your spleen is removed, your doctor will give you a prescription for preventive antibiotics that you take by mouth. They can help further lower your risk of infections.
There is no cure for HS, but it can be treated. The severity of your symptoms will determine which course of treatment you receive. Some mild cases can be treated without surgery. Removing the spleen can cure symptoms of hereditary spherocytosis.
A splenectomy is the most common treatment for hereditary spherocytosis. Because your red blood cells become damaged in the spleen, removing the spleen will cure your anemia. Your red blood cells will still have their spherical shape, but they’ll live longer. Removing the spleen can also prevent the development of gallstones.
Other Treatment Methods
Not everyone with this condition needs to have their spleen removed. Your doctor might think less invasive measures are better suited for you. For example, surgery is not recommended for children under age 5. Instead, your child’s doctor may put them on a folic acid supplement.
Folate is a form of B vitamin that your body needs to produce red blood cells. A daily dose of oral folic acid is the preferred treatment option for young children and those with mild cases of HS. You may need red blood cell transfusions if you have severe anemia.
Your doctor might treat you with light therapy, also called phototherapy, if you exhibit severe jaundice.
Preventive antibiotics can help with the symptoms of HS in some people. This is a popular treatment option for children.
Your doctor will develop a treatment plan for you based on the severity of your symptoms. People who have their spleens removed will be more susceptible to infections. Your doctor may recommend preventive antibiotics.
People who have mild HS should take their supplements as instructed, and should check in with their doctor regularly to make sure their condition is managed well.