What causes sickle cell anemia?
Sickle cell anemia is caused by a gene mutation that is passed down through families (inherited).
- In hemoglobin SS disease, a child receives one hemoglobin S gene from both parents. They have two abnormal genes.
In the other types of sickle cell disease, a child receives a hemoglobin S gene from one parent and another type of abnormal hemoglobin gene from the other parent.
- In sickle beta thalassemia, a child receives a hemoglobin S gene from one parent and one beta thalassemia gene from the other.
- In Hemoglobin SC disease, a child receives a hemoglobin S gene from one parent and a beta thalassemia gene from the other parent.
Sickle cell trait is the carrier status for sickle cell anemia. A child with sickle cell trait inherits a hemoglobin S gene from one parent and a normal hemoglobin gene (hemoglobin A) from the other parent. A person with the sickle cell trait does not have sickle cell anemia, but can pass the hemoglobin S gene to their children.
How common is sickle cell disease?
In the United States, approximately 100,000 people have sickle cell disease.
Approximately 1 in 12-13 African-Americans have sickle cell trait.
What are the symptoms of sickle cell anemia?
Some of the symptoms of sickle cell anemia include:
- Severe anemia
- Regular infections
- Sudden episodes of pain (called crises)
- Enlarged spleen
- Blood clots
- Dark urine
- Swelling in hands and feet
- Chest pain
- Presence of too many white blood cells
- Bone infections
Blood cells live around 120 days in healthy individuals. People with sickle cell anemia have blood cells that live only 10 to 20 days. In healthy people, blood cells are replaced regularly. In people with sickle cell anemia, regular blood production can be difficult. That can lead to severe anemia, or a lack of healthy red blood cells.
Diagnosing sickle cell anemia
- Every infant in the United States is screened for sickle cell anemia by collecting blood from a heel or finger.
- Doctors can also screen for sickle cell disease before a baby is born. This test involves taking a sample of the fluid that surrounds the unborn child. The test can occur as early as the first three months of pregnancy.
- If the test results are negative, no sickle cell gene is present.
- If the results are positive, further tests may be done to find out the exact type of sickle cell disease the child has.
How is sickle cell anemia treated?
Sickle cell anemia is treated similarly to other types of sickle cell disease. Common treatments include:
- Antibiotics
- Transfusions of red blood cells
- Treatment with the drug hydroxyurea
- Transplanting stem cells (used very rarely)
Learn more: Sickle Cell Disease
Why choose St. Jude for your child’s sickle cell anemia treatment?
- The nurse-to-patient ratio at St. Jude is unmatched—averaging 1:3 in hematology and oncology, and 1:1 in the Intensive Care Unit.
- St. Jude has always had a deep commitment to children with sickle cell disease. The hospital’s scientists have been studying this disorder since St. Jude opened in 1962. The first research grant ever received by the hospital was for the study of sickle cell disease.
- St. Jude has several sickle cell research labs. Some scientists perform basic research. Others do studies that bridge the gap from the lab to the clinic.
- St. Jude has taken part in and led several trials evaluating the use of hydroxyurea in children with sickle cell disease. This ongoing research includes work to learn how the drug protects organs against damage from the disease.
- The St. Jude-Methodist Sickle Cell Disease Transition Clinic helps 18-year-olds make the leap from St. Jude to adult care. Clinicians hope the transition program for 12 to 18 year olds will become a national model for similar programs that encourage teens with sickle cell disease to continue their treatment as adults.
- St. Jude has a study that looks at long-term outcomes in sickle cell disease. The Sickle Cell Clinical Research and Intervention Program is helping scientists design new sickle cell disease therapies.
- St. Jude offers a support program that children with sickle cell disease sail through MRI scans without anesthesia. Children in this program are more likely to complete MRIs without general anesthesia than those who do not take part in the program.
Associated Clinical Trials
BHEEM: Study of BEAM-101 in Patients with Severe Sickle Cell Disease
A Phase 1/2 Study Evaluating the Safety and Efficacy of a Single Dose of Autologous CD34+ Base Edited Hematopoietic Stem Cells (BEAM-101) to Increase Fetal Hemoglobin (HbF) Production in Patients with Severe Sickle Cell Disease
Diseases Treated:
Eligibility:
- 18 to 35 years old
- Diagnosed with severe sickle cell disease
BMR: Bone Marrow Collection for Sickle Cell and Thalassemia Research
Bone Marrow for Hemoglobinopathy Research
Diseases Treated:
Sickle cell anemia, thalassemia
Eligibility:
This is a non-therapeutic clinical trial that is only open to St. Jude patients.
- At least 2 years old
- Diagnosed with sickle cell anemia or thalassemia
- No active disease, including painful crisis or active infection
- Adequate blood counts
CASPERKID: Study of Exa-cel in Children with Severe Sickle Cell Disease
A Phase 3 Study to Evaluate the Safety and Efficacy of a Single Dose of Autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (Exagamglogene Autotemcel or Exa-cel) in Subjects with Severe Sickle Cell Disease
Diseases Treated:
Eligibility:
- 2–11 years old
- Diagnosed with severe sickle cell disease (SCD)
GENETX: Assessment for Gene Therapy Decisions
Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-Aids for Gene Therapy for Rare Diseases (GENETX)
Diseases Treated:
Neurological Disorders
Sickle Cell Disease
Hemophilia
Inherited Genetic Diseases
Eligibility:
- Non-therapeutic clinical trial
- Interviews conducted remotely
- 18-35-year-olds with rare genetic diseases
- Parents or caregivers of patients under 21 with rare genetic diseases
- Health care workers for gene therapy patients
INSIGHT-HD: Investigating the Genetics of Hematologic Diseases
Diseases Treated:
Non-malignant blood diseases (non-therapeutic)
Eligibility:
- Receiving therapy or a consultation for a non-malignant blood disorder
- Biological relatives (with or without a non-malignant blood disorder) who agree to undergo genetic testing
LEAPS: Understanding Sickle Cell Disease Transition to Adult Care
Longitudinal Examination of Predictors and Outcomes of Sickle Cell Disease Health Care Transition
Diseases Treated:
Eligibility:
This is a non-therapeutic study for patients at St. Jude Children’s Research Hospital and Methodist Adult Comprehensive Sickle Cell Center.
- Diagnosis of sickle cell disease (SCD)
- 16 to 20 years old
- English is primary language
PMVOCVR: Virtual Reality Therapy for Vaso-Occlusive Crisis in Patients with Sickle Cell Disease
Virtual Reality Pain Management of Vaso-Occlusive Crisis in Children and Young Adults with Sickle Cell Disease
Diseases Treated:
Eligibility:
This is a non-therapeutic clinical trial that is open only to patients at St. Jude or Methodist Healthcare.
- Between 6 and 25 years old
- Diagnosed with sickle cell disease
- Seeking care for acute vaso-occlusive crisis pain at St. Jude Children’s Research Hospital or Methodist Healthcare
- Speaks English
SCCRIP: Sickle Cell Research and Intervention Program
Diseases Treated:
Eligibility:
- Participant has a diagnosis of Sickle Cell Disease of any genotype.
SCDCogO2: Analyzing Oxygen Saturation and Neurocognitive Functioning in Patients with Sickle Cell Disease
Cerebral Hemodynamics and Neurocognitive Functioning in Sickle Cell Disease
Diseases Treated:
Non-therapeutic
Eligibility:
This is a non-therapeutic clinical trial that is only open to St. Jude patients.
St. Jude Patients
- 8 to 17 years old
- Sickle cell anemia
- Enrolled on the Sickle Cell Clinical Research Intervention Program (SCCRIP) clinical trial
- Completed Sickle Cell Assessment of Neuropsychology Skills (SCANS) assessment
- Being treated with hydroxyurea
- Read and speak English
Siblings
- Siblings of St. Jude patients with sickle cell disease
- Do not have sickle cell disease
- 8 to 17 years old
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