What is hereditary spherocytosis?
Hereditary spherocytosis is a condition where the cell membrane (outer wall) of red blood cells is weak. As a result, red blood cells are rounder than they should be and have a shorter lifespan.
Normal red blood cells are flexible, flat and disc-shaped, allowing them to move through smaller blood vessels to deliver oxygen throughout the body. The shape of red blood cells in hereditary spherocytosis are rounder, more sphere-shaped, making it harder for them to fit through blood vessels as they should.
The abnormal sphere-shaped red blood cells are destroyed by the spleen (an organ in the body that helps with immune function and red blood cell maintenance). This condition is called hemolytic anemia. In severe cases, hemolytic anemia can result in less oxygen getting to cells, tissues and organs in the body.
What causes hereditary spherocytosis?
Hereditary spherocytosis is caused by a mutation (change) of one or more genes responsible for formation of healthy red blood cells. These gene changes are usually inherited (passed down from parents to children). Rarely, hereditary spherocytosis is caused by a new, random genetic mutation.
What are the signs and symptoms of hereditary spherocytosis?
The signs and symptoms of hereditary spherocytosis are similar to symptoms of anemia. For some patients, hereditary spherocytosis is mild with few symptoms. Other patients may have more frequent and severe symptoms, which can include:
- Pale skin, lips or nail beds
- Lack of energy (fatigue)
- Dizziness or lightheadedness
- Rapid heartbeat (tachycardia)
- Shortness of breath
- Abdominal pain
- Yellow color in whites of eyes (icterus) or yellow skin tint (jaundice)
- Gallstones (stones in the gallbladder)
- Enlarged spleen (splenomegaly)
What tests are used to diagnose hereditary spherocytosis?
Your child’s doctor uses a combination of physical examination and laboratory tests to diagnose hereditary spherocytosis, including:
- Complete blood count (CBC) test: This blood test checks the level of red blood cells in the blood and the percentage of immature red blood cells (called reticulocytes). A CBC test will show if your child has anemia.
- Physical examination: A physical exam can help determine if your child’s spleen is enlarged.
- Bilirubin test: This is a blood test that checks bilirubin levels (a substance created when red blood cells are broken down).
- Microscope analysis: We look at blood cells under a microscope to determine their shape and look for other signs of hereditary spherocytosis.
- Coombs test: This test looks at antibodies on the red blood cells (direct) or in the bloodstream (indirect) that can attach to red blood cells.
- Osmotic fragility test: We evaluate your child’s blood to determine if red blood cells are more fragile or likely to break down.
- Abdominal ultrasound: This painless imaging test can show gallstones, a symptom of hereditary spherocytosis.
- Genetic testing: Although rarely used to diagnose hereditary spherocytosis, testing can be useful if neither parent has the condition and a child does. Genetic counseling can also advise parents who have (or carry the abnormal gene for) hereditary spherocytosis on the risk of the condition being passed down in future pregnancies.
Why choose us for diagnosing and treating hereditary spherocytosis?
At Children’s Hospital Colorado, we work as a multidisciplinary team to diagnose and treat hereditary spherocytosis. Here, your child has access to all the specialists they need for the right treatment, including:
- Pediatric surgeons
- Pediatric hematologists (blood specialists)
- Pathologists (specialists in looking at body tissues to make a diagnosis)
- Radiologists (imaging test specialists)
- Advanced practice providers (nurse practitioners and physician assistants)
- Genetic counselors
- Social workers
- Child life specialists
The Children’s Colorado Hematology Program at the Center for Cancer and Blood Disorders features a partnership with the University of Colorado Hemophilia and Thrombosis Center, and provides family support services, school visits and community outreach education.
What to expect from testing for hereditary spherocytosis
- History and physical examination: Your child’s provider performs a thorough exam and asks questions about your child’s personal and family medical history. The provider will explain what additional tests may be needed.
- Blood tests: A definitive diagnosis of hereditary spherocytosis is made with blood tests. Our phlebotomy staff (who specialize in blood draws) and nursing staff perform blood draws quickly. Our child life specialists can meet with your child before and during a blood draw to explain the procedure in an age-appropriate way, offer support and teach coping skills. The blood draw itself only takes a few minutes. Results are usually available within a few hours to a few days.
- Abdominal ultrasounds: This imaging test helps doctors identify gallstones. Your child does not need to be asleep for this test, which is typically painless. Our radiology team and child life specialists can work with your child to prepare for the ultrasound and discuss any stress or fears they may have about the process.
How is hereditary spherocytosis treated?
If your child has mild symptoms of hereditary spherocytosis, they may only require yearly monitoring, blood tests and ultrasound exams. We can do this at your child’s pediatrician’s office, or at the Hematology Program.
If your child has more severe symptoms, treatment may include:
- Folic acid: This form of vitamin B helps your child’s body produce more red blood cells. Your child’s medical provider will discuss the appropriate dosage of folic acid.
- Phototherapy (light therapy): If your newborn has severe icterus or jaundice (yellowing of eyes or skin) due to buildup of bilirubin, we may recommend treatment under blue lights. This therapy helps break down the bilirubin so it can be passed out of your child’s body. High bilirubin levels can lead to brain damage if untreated. Treatment with phototherapy occurs while your newborn child is in the hospital soon after birth.
- Blood transfusion: Children with very low levels of red blood cells may require a blood transfusion from a healthy donor. Transfusions are usually done with the Hematology Program at the Center for Cancer and Blood Disorders.
- Splenectomy: Children with severe hereditary spherocytosis symptoms may benefit from having their spleens surgically removed. In most cases, the surgery, called a splenectomy, can be performed using minimally invasive surgery (laparoscopic splenectomy). A splenectomy can slow down the destruction of red blood cells in your child’s body and reduce the risk of gallstones. Because the spleen helps to fight infections, this surgery is typically delayed until your child is at least 5 years old and has a stronger immune system.
Why choose us for treatment of hereditary spherocytosis?
At Children’s Colorado, we use a multidisciplinary team approach to diagnose and treat patients with complicated conditions like hereditary spherocytosis. Our experts also serve as a trusted resource for other providers who diagnose and treat hereditary spherocytosis.
Our center provides comprehensive support and education for families managing their child’s condition. Children’s Colorado consistently ranks among the top pediatric hospitals in U.S. News & World Report and was recently ranked No. 4 in the country in gastrointestinal surgery.