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Hereditary Spherocytosis

illustration of spherocytosis

Hereditary spherocytosis is a blood disorder where red blood cells are round and break down faster than normal.

What is hereditary spherocytosis?

Hereditary spherocytosis (HS) is a disorder that affects red blood cells. Red blood cells carry oxygen throughout the body. Healthy red blood cells are shaped like discs with flat centers. They are flexible and move easily through blood vessels.

People with hereditary spherocytosis have red blood cells that are round like spheres. These red cells are called spherocytes. Spherocytes live a shorter time than healthy red blood cells because they break down more easily in the spleen. This can cause low numbers of red blood cells (anemia).

Symptoms of hereditary spherocytosis

Hereditary spherocytosis can cause different problems for different people. Signs and symptoms can depend on the health problems or complications it causes.

Hemolytic anemia

Hemolytic anemia is a condition in which red blood cells break down faster than they are replaced. In hereditary spherocytosis, spherocytes are broken down faster than normal, resulting in anemia. 

Signs and symptoms of hemolytic anemia include:

  • Feeling tired or weak
  • Pale skin, gums, or nail beds
  • Headache
  • Feeling dizzy or lightheaded
  • Cold hands or feet
  • Fast or irregular heart rate
  • Shortness of breath  
  • Yellow color of skin and eyes (jaundice)
  • Gallstones
  • Increase in the size of the spleen

Jaundice

If your child has jaundice, their skin and eyes might look yellow, and their urine (pee) might be dark.

The body makes bilirubin, a yellow substance made when red cells are destroyed or break down in the body. In hereditary spherocytosis, the body destroys red blood cells faster than normal. This can cause extra bilirubin, which can make the skin and eyes look yellow. Bilirubin can also form small stones in the gallbladder (gallstones).

Enlarged spleen

The spleen is an organ on the left side of the body under the ribcage. It is normally about the size of a fist. The spleen helps fight certain types of infection and removes damaged and abnormal cells including spherocytes. Spherocytes can get trapped inside the spleen because they are round and less flexible than normal red blood cells. The trapped cells can make the spleen larger than normal.

If the spleen is larger than normal, your child might have abdominal (belly) pain or feel full more quickly after eating.

Causes of hereditary spherocytosis

Hereditary spherocytosis is usually inherited (passed down in families). This means the disorder is passed down from parent to child through a gene change (mutation). But your child could be the first person in the family to have the condition. Your child might pass the gene change on to their children. 

Diagnosis of hereditary spherocytosis

Your child’s doctor may refer your child to a hematologist, a doctor who diagnoses and treats blood disorders. Hereditary spherocytosis is diagnosed based on your child’s medical and family history, physical exam, and lab tests. 

Lab tests may include:

  • Complete blood count (CBC) to look for signs of anemia. A CBC test measures:
    • The number of red blood cells, white blood cells, and platelets 
    • The size of red blood cells
    • Hematocrit, which shows how much of the blood is made up of red blood cells 
    • Hemoglobin, a protein in the blood that carries oxygen 
  • Peripheral blood smear to look at red blood cells under a microscope. Round spherocytes will be present if your child has hereditary spherocytosis. 
  • Reticulocyte count to measure the number of young red blood cells in your child’s body. A high reticulocyte count means the bone marrow has to make more cells to replace damaged ones.
  • Bilirubin test to measure bilirubin levels. Bilirubin is a substance made by the liver when red blood cells break down.

There are other tests that show if your child has hereditary spherocytosis or another blood disorder. Your care team will discuss these tests with you.

Treatment of hereditary spherocytosis

Some people with hereditary spherocytosis may have no symptoms or very few symptoms. There is no cure for hereditary spherocytosis. Care focuses on preventing and treating the problems caused by the condition. 

It is important to see your child’s hematologist regularly for checkups that include a physical exam and blood tests. Ultrasound imaging tests may be used to look at your child’s spleen and gallbladder. 

People with mild symptoms may not need treatments. For others who have more symptoms, treatments may be needed to manage complications of hereditary spherocytosis. These may include:

Blood transfusions

Your child may need a blood transfusion if they have severe anemia (low red blood cells). During a blood transfusion, your child will receive blood cells or parts of blood through a vein.

Surgery to remove the spleen (splenectomy)

If your child has moderate or severe anemia or if the spleen becomes very large, your care team may recommend surgery to remove the spleen. This procedure is called a splenectomy. 

The spleen filters the blood and removes abnormal red blood cells from the body. Removing the spleen will increase the number of red blood cells and treat the anemia. 

If your child has their spleen removed, your care team will recommend extra vaccines and antibiotics to help prevent infections after the surgery. 

Surgery to remove the gallbladder (cholecystectomy)

Your child may have surgery to remove the gallbladder if they have pain or other problems. This procedure is called a cholecystectomy. 

The gallbladder is a pear-shaped organ found below the liver. It is part of the digestive system that breaks down food in the body. The liver makes a fluid called bile, which also contains a substance called bilirubin. Bile is stored in the gallbladder before it drains into the intestines. If this bile hardens, it can form hard pieces called gallstones

Gallstones can be painful if they block the drainage of bile. Surgery to remove the gallbladder is the main way to treat gallstones. 

Prognosis for hereditary spherocytosis

Hereditary spherocytosis may be classified as mild, moderate, or severe based on symptoms. The prognosis is usually good but depends on the severity of the condition and how it affects your child’s body. Ask your care team about your child’s specific prognosis. 

Living with hereditary spherocytosis

Hereditary spherocytosis is a lifelong condition, but there are things you can do to help your child manage symptoms and stay healthy.

Eat a healthy diet and drink plenty of fluids 

Good nutrition is important for the body to work properly. Your child should eat the recommended servings of fruits, vegetables, whole grains, and protein. These foods contain iron and nutrients your child needs. Your care team might recommend a folic acid supplement. 

Be sure your child drinks water or other fluids to help prevent dehydration

If you have questions about what foods your child should eat or how much fluid they should drink, ask your care team.

Prevent infection

Simple steps can reduce your child’s risk of infection:

  • Wash hands often.
  • Stay away from people who are sick.
  • Get all vaccines that your care team recommends.

If your child’s spleen has been removed, they are at higher risk of infection. Call your health care provider right away any time your child has a temperature of 101°F (38.3°C) or more.

Know the signs of aplastic crisis

Hereditary spherocytosis increases your child’s risk of aplastic crisis. An aplastic crisis happens when the bone marrow suddenly stops making red blood cells. When the body cannot make new red blood cells, it cannot replace the cells as they break down. Red blood cell counts can drop to very low levels. This can result in severe anemia. 

A common infection called parvovirus is the main cause of aplastic crisis. This virus can stop your child’s body from making new red blood cells for 7–10 days. Your child might look pale and be more weak or tired than usual during an aplastic crisis. They might have a fever, fast heartbeat, or feel short of breath. 

If your child has symptoms of aplastic crisis, seek medical care right away. Treatment of aplastic crisis may require a hospital stay for treatments and follow-up tests. Your child might need a blood transfusion or other medical care. An aplastic crisis can be life threatening if not treated right away.

When to contact your care team

Call your health care provider if your child has any of these symptoms:

  • Pale skin
  • Yellow skin or eyes
  • Frequent stomach aches 
  • Being more tired than usual
  • Shortness of breath
  • Fever 

Questions to ask the care team

  • What treatment does my child need?
  • What follow-up appointments and medical care will my child need?
  • What signs or symptoms should I watch out for?
  • How will hereditary spherocytosis affect my child’s daily life?
  • How can I help my child stay healthy?
  • What is the long-term outlook for my child?
  • Do other family members need to be tested for the condition?

Key points about hereditary spherocytosis

  • Hereditary spherocytosis is a genetic disorder that affects red blood cells, causing them to become round (sphere-shaped). 
  • These abnormal red blood cells break down faster in the spleen than normal red blood cells.
  • Hereditary spherocytosis can cause health problems such as an enlarged spleen, gallstones, jaundice, hemolytic anemia, and aplastic crisis.
  • Hereditary spherocytosis is a lifelong disorder, and treatments involve managing problems that result from it. 


Reviewed: October 2024

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