Hereditary Spherocytosis

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What is hereditary spherocytosis?

Hereditary spherocytosis is an inherited blood disorder that often causes anemia and other problems.

In spherocytosis (pronounced sfeer-o-sy-TOE-sis), the outer shell of red blood cells is fragile. Over time, small bits of the shell (membrane) come off when the cells pass through the spleen. This makes the cells become rounder, like spheres.

These rounder cells have a shorter life than normal cells — as short as 10 to 30 days instead of 100 to 120 days.

Red blood cells carry oxygen around the body, bringing it to cells that need it. Because so many red blood cells are destroyed in spherocytosis, many children with this condition have a low level of red blood cells (anemia). If the anemia is severe, your child’s tissues will get less oxygen than normal. Your child’s bone marrow also has to make more red blood cells every day to replace the cells that are destroyed.

What causes hereditary spherocytosis?
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. But it can affect people from all ethnic and racial backgrounds.

Cancer and Blood Disorder Care at Seattle Children's

Our team treats children, teens and young adults, including those with the hardest-to-treat cancers and blood disorders. We provide treatment options that many centers do not offer.

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 or changes in skin color). Children with gallstones may have belly pain.

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 belly 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 (to see if your child has anemia)
The percentage of immature red blood cells (reticulocytes) in the blood
The shape of the red blood cells as seen under a microscope
How much a special chemical binds to the red blood cell membrane — this test is called a hereditary spherocytosis screen
Whether the blood contains antibodies that can destroy red blood cells
The level of bilirubin, a pigment from the breakdown of red blood cells

Genetic counseling

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

Therapy for jaundice

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 newborn under blue lights. This is called light therapy or phototherapy.
Blood transfusions

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 open every day.
Surgery on the spleen

Because red blood cells get destroyed in the spleen, it may help your child’s condition to remove all or part of their spleen. This surgery is called a splenectomy or partial splenectomy.

Removing part or all of the spleen slows 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 infections.

In most cases, our surgeons can do laparoscopic surgery. They remove part of the spleen through small cuts with the aid of a tiny camera, rather than through a large cut. Our team can arrange for you to have a clinic visit with a surgeon to learn more.

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.
Gallstone treatment

Children with spherocytosis have a greater chance of forming gallstones. These are small, stone-like objects that form when the liquid in the gallbladder (bile) hardens.

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

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

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

Children do not need to take extra folic acid if they get enough through a healthy diet unless their 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.

Hereditary Spherocytosis at Seattle Children’s

Children with this condition can have healthy, active lives. But they need care from a blood specialist (hematologist) with experience in this disease. At Seattle Children’s, we provide complete care for children with hereditary spherocytosis. We work with you, your child, your family and your child's primary care provider to get your child the right care and services. We also counsel parents who have this disease and want to know more about their risk of passing it down to their children.

If you would like an appointment, ask your primary care provider to refer you to our Cancer and Blood Disorders Center. If you have a referral or would like a second opinion, contact the center at 206-987-2106.

Providers, see how to refer a patient.

The experts you need for comprehensive care
Our doctors are nationally known for treating children who have blood disorders. The doctors who will guide your child’s care are board certified in pediatric hematology. This means they are approved to give the specialized care your child needs, and they constantly expand their knowledge about blood disorders.

Our full range of services includes blood transfusions and surgery to treat children with severe disease. Our surgeons are specially trained to care for kids and are board certified in pediatric surgery. They are skilled at doing laparoscopic surgery, which uses smaller cuts (incisions) than in traditional procedures.

Seattle Children’s also has the experts to treat problems this disease might cause, such as gallstones.

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
- A genetic counselor to help identify if other family members have the condition and the chance of passing it on in a future pregnancy
- Child life specialists who help your child cope with their illness and treatments
Read about the supportive care we offer.
Among the nation’s best children’s hospitals

Our specialty is treating children’s conditions while helping them grow up to be healthy and productive.

Our physician-scientists help set national standards for care of young people with blood disorders. We provide the most advanced treatments in our region.

Children do not react to illness, injury, pain and medicine in the same way as adults. They need — and deserve — care designed just for them. We plan your child’s treatment based on years of experience and the newest research on what works best — and most safely — for children.
Support for your whole family

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. If needs are not urgent, most new patients are 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.