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Sickle cell disease (SCD) is a genetic disorder that results in abnormal red blood cells. Most babies with SCD start showing symptoms in their first year. Sickle cell disease is a chronic disease, meaning it does not go away, that can cause pain and damage throughout the body.
Red blood cells contain a molecule called hemoglobin to carry oxygen throughout the body. These cells are normally red, round and flexible, so they can move easily through blood vessels.
Children with sickle cell disease, however, have red blood cells that become more rigid than normal. They are also C-shaped, like a crescent moon or sickle.
These sickle-shaped cells don't live as long and can cause anemia, a condition where the body doesn't have enough healthy red blood cells. The cells may also get stuck in blood vessels, blocking blood flow and causing pain and organ damage. In severe cases, SCD can lead to pneumonia, life-threatening infections, or stroke.
Types of Sickle Cell Disease
The type of sickle cell disease a child may have depends on the specific genetic change (mutation) that led to the abnormality. The most severe form is called Hemoglobin SS (or sickle cell anemia), which leads to long-term anemia.
Other, milder types of SCD are:
- Hemoglobin SC (HbSC)
- Hemoglobin sickle beta thalassemia (HbS beta thalassemia)
- Hemoglobin SD (HbSD)
- Hemoglobin SE (HbSE)
- Hemoglobin SO (HbSO)
Children with sickle cell trait (SCT) inherit a gene for sickle cell hemoglobin from one parent and a normal hemoglobin gene from the other parent. They usually do not have any symptoms and rarely have health problems related to the disease. However, they may pass this trait to their own children.
Causes and Risk Factors of Sickle Cell Disease
Sickle cell disease is caused by mutations in a specific gene (hemoglobin-beta gene) that result in abnormally shaped red blood cells. Children must receive the hemoglobin-beta gene from both parents to develop the disease.
SCD is the most common inherited blood disorder in the U.S., especially among Black children. About 1 in 365 Black babies are born with SCD each year. However, SCD affects people of all ethnicities.
Signs and Symptoms of Sickle Cell Disease
Children born with sickle cell disease usually start to experience symptoms at about 5-months-old. Symptoms vary from mild to severe and may change over time.
SCD may damage organs, bones, or joints. Common symptoms include:
- Anemia (low level of red blood cells)
- Developmental delays, including late puberty
- Dizziness
- Fatigue
- Frequent infections
- Pain
- Pale skin, lips, whites of eyes or nailbeds
- Rapid heartbeat
- Shortness of breath
- Swelling of hands and feet
- Vision issues, including damage to the retina
- Yellowing of the eyes and skin (jaundice)
Complications of Sickle Cell Disease
Sickle cell disease can lead to serious health problems, such as blood clots, that may be life-threatening and require immediate medical care. These include:
- Acute Chest Syndrome: Sickle cells block blood vessels in the lungs, causing chest pain, trouble breathing, coughing, and fever. This can lead to pneumonia.
- Aplastic Crisis: This happens when the body experiences severe anemia, or very few red blood cells. Symptoms include a rapid heartbeat, pale skin and extreme fatigue.
- Hand-Foot Syndrome: This can be the first symptom of SCD in infants. Symptoms include painful swelling of fingers and/or toes.
- Pain Crisis (Vaso-Occlusive Crisis): This is the most common complication of SCD and often requires hospital treatment. Sickle cells block blood flow, causing sudden and intense pain that can last for days or longer.
- Priapism: In boys, sickle cells can block blood flow in the penis, causing a painful, long-lasting erection that, left untreated, can cause long-term problems.
- Splenic Sequestration Crisis: When sickle cells block blood flow out of the spleen, it can lead to a sudden drop in the body’s blood cell count and an enlarged spleen. Symptoms include weakness or extreme fatigue, fever, abdominal pain or pale skin.
- Stroke: When sickle cells block blood vessels that supply oxygen to the brain, it can lead to a stroke. Symptoms include weakness on one side of the body, slurred speech, seizure, dizziness or severe headache. About 10% of children with SCD historically have had strokes. Call 911 immediately if you suspect your child is having symptoms of stroke.
Diagnoses and Tests for Sickle Cell Disease
To diagnose sickle cell disease, doctors typically review family history and conduct blood tests to check for abnormal hemoglobin. In some cases, prenatal tests may detect SCD before birth. Testing for SCD is part of routine screening for newborn babies.
Doctors may also do an ultrasound to check blood flow to the brain, which can help determine if there is any stroke risk. Genetic testing may provide additional information about the specific type of SCD to help establish a prognosis and guide treatment.
Treatment for Sickle Cell Disease
Treatment for sickle cell disease depends on your child’s age, overall health, and the specific type of SCD they have. The main goals of treatment are to relieve symptoms, prevent complications, and reduce pain crises. Some treatments also aim to cure the disease, such as gene therapy. Eligible patients also have access to clinical trials for advanced treatments, providing them with the most innovative care before widely accessible.
Symptom Management and Prevention
- Medications:
- Pain relievers are commonly prescribed to manage pain crises.
- Hydroxyurea (Droxia, Hydrea, Siklos) helps reduce the frequency of pain episodes and prevents severe symptoms.
- L-glutamine oral powder (Endari) can also reduce acute complications of SCD.
- Antibiotics and Vaccines: To lower the risk of infections, which children with SCD are more prone to, antibiotics and vaccines are used as part of preventive care.
- Folic Acid Supplements: Folic acid supports the production of new red blood cells, helping to offset some effects of SCD.
Bone Marrow (Stem Cell) Transplant
A bone marrow transplant is the most widely used curative treatment for sickle cell disease. This procedure involves replacing faulty blood-forming cells in the bone marrow with healthy cells from a donor. A transplant may be considered if your child:
- Suffers from severe complications, such as frequent pain crises, acute chest syndrome, or stroke.
- Is unresponsive to treatment with hydroxyurea.
- Has a sibling with closely matched bone marrow who does not have SCD.
Gene Therapy Treatment for Sickle Cell Disease
Gene therapy is a newer, cutting-edge treatment that targets the genetic mutation causing sickle cell disease. Children’s Hospital Los Angeles is one of the nation’s leading authorities, and premier leader in California, in pediatric gene therapy. We offer two FDA-approved gene therapy treatments for children with SCD 12 years and older, called Lyfgenia™ and Casgevy®. Both treatments aim to decrease or stop symptoms of SCD by fixing the root genetic problem.
We are one of the few facilities in the nation offering Casgevy, the first cell-based gene therapy treatment using CRISPR-Cas9 gene editing technology, which modifies an organism's DNA, to be approved by the FDA. During the treatment process, doctors collect bone marrow cells from the patient, modify them outside the body to correct the abnormal gene, and reinfuse the corrected cells back into the patient. Learn more about cell and gene therapy at CHLA.
What Is the Outlook for Children with Sickle Cell Disease?
Sickle cell disease can be managed, and advances in treatment have significantly improved the quality of life and life expectancy for affected children. Although SCD remains a serious condition, modern therapies have reduced many of its life-threatening complications. Today, more than 95% of children with SCD in the U.S. live well into adulthood.
While SCD still affects life expectancy, continued advances in care and treatment have made a significant difference. Preventive care, early diagnosis, and new medications have reduced many complications and improved overall outcomes for children with SCD.
Sickle Cell Disease Care at Children’s Hospital Los Angeles
Our specialists have a world-class reputation for treating sickle cell disease, and we are also a leader in pediatric gene therapy, offering cutting-edge treatments. Our comprehensive Sickle Cell Disease Program provides not only advanced medical care, but also personalized support tailored to each family’s needs. This includes dedicated social workers and case managers who help remove barriers to care, ensuring families receive the support they need every step of the way. Learn more about the comprehensive care and treatment options we offer at our Sickle Cell Disease Program.