What Is Hereditary Spherocytosis?
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.
What Are the Symptoms of HS?
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
onset of puberty may be delayed in some children who have HS. Some children
may also experience abdominal discomfort and have an enlarged spleen
What Causes This Disorder?
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.
How Is Hereditary Spherocytosis Diagnosed?
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
What Are the Complications of Hereditary Spherocytosis?
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
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.
What Are the Treatment Options for Hereditary Spherocytosis?
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
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.
What Is the Long-Term Outlook?
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.