Hereditary Spherocytosis

What is hereditary spherocytosis?

In spherocytosis, the outer shell (membrane) of a child’s red blood cells is fragile. This is caused by a genetic problem.

The red blood cells have a normal shape at first – flat discs, like a doughnut without the hole. Over time, small bits of their membranes come off when the cells pass through the spleen. This makes the cells become rounder, like spheres.

These rounder cells are easily destroyed. They have a shorter life than normal cells – as short as 10 to 30 days instead of 100 to 120 days.

Red blood cells contain a protein called hemoglobin that carries oxygen around your child’s body, bringing it to cells that need it. Because so many red blood cells are destroyed in spherocytosis, your child has a low level of red blood cells. This is called hemolytic anemia. If the anemia is severe, your child’s tissues will get less oxygen than normal.

  • Hereditary spherocytosis is caused by changes (mutations) in 1 or more genes that affect the membranes of red blood cells.

    Almost always, the abnormal gene that causes hereditary spherocytosis is passed down from parents to children. 

    • Usually, 1 parent has the disorder and there is a 50% chance of passing it on in each pregnancy.
    • Less often, a child inherits an abnormal gene from both parents but the parents themselves have no symptoms of disease.
    • Rarely, the disorder results from a new mutation in the egg or sperm of the mother or father. 

    The condition is more common in people whose ancestors come from northern Europe.

Hereditary Spherocytosis at Seattle Children’s

At Seattle Children’s, we offer a full range of services to diagnose and treat this disease.

Experts at our Cancer and Blood Disorders Center focus on diagnosing and treating blood disorders in children and teens, including hereditary spherocytosis.

We work with you, your child, your family and your child’s primary doctor to get your child the right care and services. We can also counsel parents who have this disease and want to know more about their risk of passing it down to their children.

Please contact the center at 206-987-2106 for more information, a second opinion or to make an appointment.

  • Our doctors are nationally known for treating children who have blood disorders. The doctors who guide your child’s care have special training and experience to give the expert care your child needs. They constantly expand their knowledge about blood conditions and the latest research.

    We care for your whole child. We don’t just treat their disease. Our team includes nurse practitioners and nurses who specialize in blood disorders and child life specialists who help your child cope with their illness and treatments. Read about the supportive care we offer.

    We offer a full range of services for children with hereditary spherocytosis. Children with severe disease may need blood transfusions and surgery. Seattle Children’s has experts who can treat problems this disease might cause, such as gallstones.

  • Our specialty is treating children’s conditions while helping them grow up to be healthy and productive. For more than a decade, U.S. News & World Report has consistently ranked Seattle Children’s Cancer Center among the best in the nation. For 2019-20, our program was the highest ranked in the Northwest.

    Children don’t react to illness, injury, pain and medicine in the same way as adults. They need – and deserve – care designed just for them.

    Our doctors have special training in how to diagnose and treat children with blood disorders. Our experts base their treatment plans on years of experience and the newest research on what works best – and most safely – for children.

  • Having a child with hereditary spherocytosis can be stressful for the entire family. We take positive steps right away by offering same-day appointments for children with urgent needs. New patients whose needs are not urgent usually can be seen within 1 or 2 weeks.

    During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

    Our social workers are here to help your child and your family through the challenges of this condition. We connect you to community resources.

    At Seattle Children’s, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

Symptoms of Hereditary Spherocytosis

The symptoms of spherocytosis are minor in some children, but for many children the condition is more serious. Your child may get these common symptoms of anemia: 

  • Pale skin, lips or nail beds compared to their normal color
  • Feeling tired or irritable
  • Feeling dizzy or lightheaded
  • Rapid heartbeat 

Your child may also have jaundice (yellow color in the whites of the eyes; maybe yellow tint in the skin for some skin colors). This happens when red blood cells break down and their pigment, called bilirubin, builds up in the body.

The extra bilirubin increases the chance that a newborn may need to be under blue lights (light therapy or phototherapy).

Extra bilirubin also increases the chance of having gallstones.

Diagnosing Hereditary Spherocytosis

To check for spherocytosis, the doctor will: 

  • Ask about the health of your child and family members
  • Examine your child and feel their abdomen to see if their spleen is larger than normal
  • Do blood tests to learn more 

Here are some of the things the doctor may look for in your child's blood: 

  • The level of red blood cells. This shows whether the child has anemia. The test is called a complete blood count, or CBC.
  • The percent of immature red blood cells in the blood. These are called reticulocytes. The level is higher in people with spherocytosis.
  • The shape of the red blood cells as seen under a microscope. Red blood cells that look round instead of flat are a sign of spherocytosis.
  • How much a special chemical binds to the red blood cell membrane. The test is called a hereditary spherocytosis screen.
  • Whether the blood contains antibodies that can destroy red blood cells.
  • The level of bilirubin.
  • Genetic testing is almost never used to diagnose hereditary spherocytosis. Usually a child inherits the condition from a parent who has it.

    Our team can advise parents who have hereditary spherocytosis (or carry an abnormal gene) and want to know more about their risk of passing it on in future pregnancies.

    If neither parent has symptoms of the disease and a child is diagnosed with it, some parents may choose to get tested to see if they carry an abnormal gene.

Treating Hereditary Spherocytosis

We check your child regularly so they receive the right treatment at the right time. Unless your child’s case is very mild, our doctors will see them at least once a year to check: 

  • Any symptoms
  • Their level of red blood cells
  • The size of their spleen
  • The risk for gallstones
  • Your newborn will need treatment if they have severe jaundice (yellowing of the whites of the eyes or skin). This is caused by a buildup of bilirubin, the pigment from red blood cells. High levels of bilirubin can cause brain damage if untreated.

    The usual treatment is to place your baby under blue lights. This is called light therapy or phototherapy.

  • If your child has very low levels of red blood cells, they may need red blood cells from a healthy donor (a blood transfusion). Your child receives the blood through a vein in their arm. This is most likely to be needed when they are 3 to 8 weeks old.

    But many children never need a transfusion, or need one only if they get a certain virus (parvovirus) that temporarily stops their body from making red blood cells.

    If your child needs a blood transfusion, they can often get care without having to spend a night in the hospital. Our outpatient infusion unit is staffed by expert nurses and is also open on weekends.

  • Because red blood cells get destroyed in the spleen, your child’s condition may be helped by removing all or part of their spleen. This surgery is called a splenectomy or partial splenectomy.

    Removing part or all of the spleen slows down how fast red blood cells break down. This improves red blood cell levels and reduces the risk of gallstones.

    Some children with hereditary spherocytosis never need their spleen removed. It depends on their red blood cell level and other symptoms.

    Because the spleen helps fight certain bacterial infections, doctors try to delay this surgery until your child is at least 5 years old. The goal of removing part – rather than all – of the spleen is to leave enough of the spleen tissue to help fight these certain bacterial infections.

    In most cases, our surgeons can do laparoscopic surgery. They remove part of the spleen through small incisions with the aid of a tiny camera, rather than through a large cut.

    In some children, the part of the spleen that remains grows larger. If that happens, they need another surgery to remove the whole spleen. Some families choose to have the whole spleen removed at the first surgery. Our team can discuss the pros and cons of these approaches and can arrange for you to have a clinic visit with a surgeon to learn more details.

    Without a spleen, the risk of infection is higher. After surgery, your doctor will explain how to help avoid infections and what symptoms to watch for. Fever can be an emergency. It is important to keep immunizations up to date after a splenectomy.

  • Children with spherocytosis have a greater chance of forming gallstones. These are small, stonelike objects that form when the liquid in the gallbladder hardens. This liquid is called bile.

    Gallstones can cause pain, infection or other problems if they get stuck in the tubes that lead out of the gallbladder.

    If your child gets gallstones, they may need surgery to remove their gallbladder. In many patients, we do ultrasounds of the abdomen every few years to look for gallstones.

  • A type of vitamin B (folic acid) may help your child’s body produce more red blood cells.

    Folic acid used to be standard treatment, but now diets in the United States tend to be rich in folic acid, so most children don’t need to take extra.

    Usually it’s only needed by children whose red blood cells break down very quickly. Ask your child’s doctor whether to use a supplement and, if so, how much to give each day.

Contact Us 

If you would like an appointment, ask your child’s primary care provider for a referral.

If you have a referral or would like a second opinion, call the Cancer and Blood Disorders Center at 206-987-2106.

Providers, see how to refer a patient.