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Hereditary Spherocytosis

What is hereditary spherocytosis?

Hereditary spherocytosis (HS) is a disorder of the surface, called the membrane, of your red blood cells. It causes your red blood cells to be shaped like spheres instead of flattened discs that curve inward. The spherical cells are less flexible than normal red blood cells.

In a healthy body, the spleen starts the immune system’s response to infections. The spleen filters bacteria and damaged cells out of the blood stream. However, spherocytosis makes it difficult for red blood cells to pass through your spleen due to the cells’ shape and stiffness.

The irregular shape of the red blood cells can cause the spleen to break them down faster. This breakdown process is called hemolytic anemia. A normal red blood cell can live for up to 120 days, but red blood cell with hereditary spherocytosis might live for as few as 10 to 30 days.

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Symptoms

Symptoms

Hereditary spherocytosis can range from mild to severe. Symptoms vary depending on the severity of the disease. Most individuals with HS have moderate disease. People with mild HS may be unaware they have the disease.

Anemia

Spherocytosis causes your red blood cells to break down faster than healthy cells do, which can lead to anemia. If spherocytosis causes anemia, you may appear paler than normal. Other common symptoms of anemia from hereditary spherocytosis can include:

  • fatigue
  • shortness of breath
  • irritability
  • dizziness or lightheadedness
  • increased heart rate
  • headache
  • heart palpitations
  • jaundice

Jaundice

When a blood cell breaks down, the pigment bilirubin is released. If your red blood cells break down too quickly, it leads to too much bilirubin in your bloodstream. An excess of bilirubin can cause jaundice. Jaundice causes the skin to turn yellowish or bronze. The whites of the eyes can also turn yellow.

Gallstones

Excess bilirubin can also cause gallstones, which can 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
  • sudden pain in your right shoulder
  • decreased appetite
  • nausea
  • vomiting
  • fever
  • jaundice

Symptoms in children

Infants may show slightly different signs of spherocytosis. Jaundice is the most common symptom in newborns, rather than anemia, especially in first week of life. Call your child’s pediatrician if you notice that your infant:

  • has yellowing of the eyes or skin
  • is restless or irritable
  • has difficulty feeding
  • sleeps too much
  • produces fewer than six wet diapers per day

The onset of puberty may be delayed in some children who have HS. Overall, the most common findings in hereditary spherocytosis are anemia, jaundice, and an enlarged spleen.

Cause

Cause

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 people of Northern European descent.

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Diagnosis

How it’s diagnosed

HS is most often diagnosed in childhood or early adulthood. In about 3 out of 4 cases, there’s a family history of the condition. Your doctor will ask you about the symptoms you have. They’ll also want to know about your family and medical history.

Your doctor will perform a physical exam. They will check 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 all your blood cell levels and the size of your red blood cells. Other types of blood tests can also be useful. For example, viewing your blood under the microscope allows the doctor to see the shape of your cells, which can help them determine if you have the disorder.

Your doctor may also order tests that check your bilirubin levels.

Complications

Complications

Gallstones

Gallstones are common in hereditary spherocytosis. Some research has shown that up to half of people with HS will develop gallstones by the time they are between 10 and 30 years old. Gallstones are hard, pebble-like deposits that form inside your gallbladder. They range greatly in size and number. When they obstruct the duct systems of the gallbladder, they can cause severe abdominal pain, jaundice, nausea, and vomiting.

It’s recommended that people with gallstones have their gallbladder surgically removed.

Enlarged spleen

An enlarged spleen is also common in HS. It is estimated that about 7 out of 10 people with HS will develop an enlarged spleen. A splenectomy, or procedure to remove the spleen, can solve the symptoms of HS, but it can lead to other complications.

The spleen plays an important role in the immune system, so removing it can lead to increased risk of certain infections. To help decrease this risk, your doctor will likely give you certain immunizations (including the Hib, pneumococcal, and meningococcal vaccines) before removing your spleen.

Some research has looked at removing only part of the spleen to decrease the risk of infections. This may be especially useful in children.

After your spleen is removed, your doctor will give you a prescription for preventive antibiotics that you take by mouth daily. The antibiotics can help further lower your risk of infections.

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Treatment

Treatment options

There is no cure for HS, but it can be treated. The severity of your symptoms will determine which course of treatment you receive. Options include:

Surgery: In moderate or severe disease, removing the spleen can prevent common complications that result from hereditary spherocytosis. Your red blood cells will still have their spherical shape, but they’ll live longer. Removing the spleen can also prevent gallstones.

Not everyone with this condition needs to have their spleen removed. Some mild cases can be treated without surgery. Your doctor might think less invasive measures are better suited for you. For example, surgery is not recommended for children who are younger than 5 years.

Vitamins: Folic acid, a B vitamin, is usually recommended for everyone with HS. It helps you make new red blood cells. A daily dose of oral folic acid is the main treatment option for young children and people with mild cases of HS.

Transfusion: You may need red blood cell transfusions if you have severe anemia.

Light therapy: The doctor might use light therapy, also called phototherapy, for severe jaundice in infants.

Vaccination: Getting routine and recommended vaccinations are also important to prevent complications from infections. Infections can trigger the destruction of red blood cells in people with HS.

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Outlook

Long-term outlook

Your doctor will develop a treatment plan for you based on the severity of your disease. If you have your spleen removed, you will be more susceptible to infections. You will need lifelong preventive antibiotics after surgery.

If you have mild HS, you should take your supplements as instructed. You should also check in with your doctor regularly to make sure the condition is managed well.

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