Hereditary Spherocytosis (HS)

What Is Hereditary Spherocytosis (HS)?

Hereditary spherocytosis (HS) is the most common inherited blood disorder that affects the outer part (membrane) of red blood cells. Red blood cells carry oxygen from your child’s lungs to tissues. 

When a child has HS, their red blood cells are round or spherical (spherocytes). They should be flat and circular like a disk. Round HS cells have a harder time moving through small blood vessels. They can get stuck in the spleen, an organ that helps filter blood. The spleen starts to destroy the red blood cells, causing them to break down faster than the body replaces them. Red blood cell levels drop too low, causing anemia. 

In most children, HS causes mild to moderate anemia. Less commonly, the condition is severe and life-threatening. With proper medical care, children with HS can lead long, active lives.

What Causes Hereditary Spherocytosis?

A gene change (mutation) causes HS. This gene change may occur in a child if:

• One of the parents has the mutated gene
• Both parents are carriers of the gene (though they may not have the disease or any symptoms)
• It occurs spontaneously (not inherited from either parent) 

What Are the Signs and Symptoms of Hereditary Spherocytosis? 

HS causes a type of anemia (low levels of healthy red blood cells) called hemolytic anemia. Signs of HS depend on disease severity. Symptoms may include:

• Anemia, which can cause fatigue, pale skin, shortness of breath, dizziness and fast heart rate (tachycardia)
• Jaundice (yellow tint to skin and eyes)
• Dark brown (tea-colored) urine 
• Enlarged spleen (splenomegaly) that may lead to poor appetite or nausea 
• Gallstones

What Are the Types of Hereditary Spherocytosis?

Healthcare providers classify HS into types, depending on the severity of symptoms. Types of HS include:

• Mild HS: Up to one-third of children have mild anemia or no symptoms. In some cases, HS isn’t diagnosed until adulthood. 
• Moderate HS: This type is the most common, occurring in up to two-thirds of children. A child has moderate anemia and jaundice. They may also have an enlarged spleen and gallstones.
• Severe HS: This least common type can cause severe, life-threatening anemia that often requires blood transfusions. A child may have significant jaundice and be at a high risk for an enlarged spleen and gallstones. 

What Are the Complications of Hereditary Spherocytosis?

HS can increase your child’s risk for certain complications: 

• Gallstones: These hardened deposits may cause severe pain in a child’s upper right belly that worsens after they eat. Gallstones cause jaundice, nausea and vomiting, as well. There’s also an increased risk for a gallbladder infection. Some children may even need surgery to remove the gallbladder (cholecystectomy). 
• Hemolytic Crisis: This condition causes a sudden drop in hemoglobin (an iron-rich protein in red blood cells), which can lead to signs and symptoms of anemia. Children may require one or more blood transfusions and expert care, often in the hospital. 
• Aplastic Crisis: Children with HS who get a viral infection, typically parvovirus B (fifth disease), are most at risk of this serious complication. The body temporarily stops making red blood cells. Levels can drop dangerously low, potentially requiring hospitalization and blood transfusions.

How Is Hereditary Spherocytosis Diagnosed?

Your child’s provider will ask about their medical history, symptoms and family history, including previous surgeries to remove a gallbladder or spleen (splenectomy). During a physical exam, they’ll look for skin color changes (paleness or jaundice) and check for an enlarged spleen.

Different tests can aid the diagnosis of hereditary spherocytosis, including blood tests. Our lab experts (pathologists) have deep expertise in specialized testing to diagnose rare and common blood disorders. These advanced blood tests take place at Lurie Children’s certified hematology laboratory. 

Depending on your child’s symptoms and blood test findings, your provider may also recommend:

• Genetic screening for children with or without a family history of HS to look for gene mutations that can cause HS
• Imaging tests, such as an ultrasound or CT scan, to look for gallstones and an enlarged spleen

How Is Hereditary Spherocytosis Treated?

Currently, there is no cure for HS. At Lurie Children’s, our pediatric blood disorder specialists (hematologists) customize a treatment plan for your child’s distinct symptoms and needs. When needed, our Child Life Specialists help ease your child’s worries about treatments and tests.

Nonsurgical Therapies

Nonsurgical treatments for HS include:

• Phototherapy: Infants with jaundice may need phototherapy. This light therapy exposes your baby’s skin to a special blue light that breaks down bilirubin. The bilirubin leaves the body in stool and urine. 
• Supplements: Your child may take folic acid (folate) supplements. This type of vitamin B helps the body make red blood cells. 
• Blood transfusions: Some children with HS need blood transfusions. The frequency depends on symptom severity. A blood transfusion increases the amount of healthy red blood cells, allowing more oxygenated blood to reach tissues and organs.

Surgeries

In certain cases, a child with HS may need surgery to remove their gallbladder. Removing the gallbladder can ease painful inflammation and blockages caused by chronic gallstones.

A child may also need surgery to remove their spleen. Highly skilled pediatric surgeons at Lurie Children’s perform this surgery, which has its pros and cons:  

• Benefits: More red blood cells circulate in the body, helping to prevent severe anemia. After spleen removal, your child should need fewer (if any) blood transfusions.
• Downsides: The spleen plays a role in fighting infections. Without a spleen, your child is more vulnerable to certain illnesses. 

After a Splenectomy

Because of the higher risk of infection after a splenectomy, your child will need:

• Daily antibiotics: This oral medication prevents a certain type of bacterial infection. Your child may need to take antibiotics for life. 
• Vaccinations: Your child needs to be current on all vaccinations and may require additional ones, such as the pneumococcal polysaccharide vaccine (PPSV23). This vaccine protects against 23 types of bacterial illnesses. 

What Is Lurie Children’s Approach to Caring for Children With Hereditary Spherocytosis?

The Center for Cancer and Blood Disorders at Lurie Children’s offers comprehensive care for children with HS and other types of blood disorders. Your family benefits from:

• Multidisciplinary care team: Lurie Children’s is among a select few centers in the region with a specialized pediatric blood disorders program. We bring together a team of specialists who focus on keeping your child healthy.
• Family-centered care: Our care team takes a shared decision-making approach. We partner with your family, ensuring you have the information you need to make informed treatment decisions. As your child nears adulthood, we help them make the transition to adult care.
• Dedicated lab for blood disorders: Blood tests to diagnose HS take place at our specialized hematology lab, which is accredited by the College of American Pathologists (CAP) and the Clinical Laboratory Improvement Amendments (CLIA). These certifications reflect our ability to provide accurate, reliable results you can trust.
• Blood transfusion services: Our Blood Bank Laboratory supports the transfusion needs of children with blood disorders. Your child may have a blood transfusion at an infusion center at Lurie Children’s main hospital campus, our outpatient center in Schaumburg or another location close to you. 
• Genetic counseling: We offer genetic testing and counseling for families affected by HS. Our specialists can help you understand how an HS diagnosis may affect your family and future generations. 
• High-level surgical expertise: Children who need surgery are in expert hands at our Level I Children’s Surgery Center, which has the highest distinction from the American College of Surgeons (ACS). 
• Support services: We offer comprehensive support services for families managing chronic pediatric health conditions. Our educational liaisons work with your child’s school, and social workers help address issues, such as mental health or financial concerns.

The Center for Cancer and Blood Disorders at Lurie Children’s 

The Center for Cancer and Blood Disorders at Lurie Children’s treats more children with cancer and blood disorders than any other hospital in Illinois. We offer the region’s most comprehensive programs and services for common and rare pediatric blood disorders, including hereditary spherocytosis. We use the latest evidence-based treatments and partner with your family to help your child enjoy life to the fullest. 

Learn more about our Center for Cancer and Blood Disorders