Sickle Cell Disease

Also called, by type of sickle cell disease: sickle hemoglobin C disease (also known as hemoglobin SC disease); sickle beta thalassemia disease (also known as sickle beta plus thalassemia disease and sickle beta zero thalassemia disease); sickle cell anemia (also known as hemoglobin SS disease, or homozygous sickle cell disease)

What is sickle cell disease?

Sickle cell disease is a group of blood disorders that prevent the normal flow of blood in the body because of the effect on the hemoglobin within red blood cells.

  • Hemoglobin is the main ingredient in red blood cells, helping them carry oxygen from the lungs to other parts of the body.
  • Normal red blood cells have hemoglobin A, which helps keep red blood cells soft and round so they flow easily through small blood vessels.
  • People with sickle cell disease have mostly hemoglobin S (also called sickle hemoglobin) in their red blood cells.
    • Hemoglobin S can form hard fibers inside the red cells, causing them to reshape into sickle (banana) shape. Abnormally shaped red blood cells cannot move through blood vessels easily and at times are blocked from delivering oxygen to some body tissues.
  • Sickle cell disease is always inherited (passed down in families).
    • When one parent has sickle cell disease and the other carries only one of the abnormal genes, such as hemoglobin S, their child has a 1 in 2 (50 percent) chance of having sickle cell disease.
    • When both parents carry a sickle cell gene, but are not sick themselves, their child has a 25 percent (1 in 4) chance of having sickle cell disease.

How common is sickle cell disease?

  • Sickle cell disease is the most common inherited blood disorder in the United States, affecting about 100,000 Americans.
  • It can occur in all races but is most common in African-Americans and Hispanics. About one out of 500 African-American babies born in the US has sickle cell disease.

What are the symptoms of sickle cell disease?

Symptoms of sickle cell disease include:

  • Painful swelling of hands and feet
  • High fevers because of weakened defenses against bacterial infection
  • Severe pain in various parts of the body—may require hospital stays
  • Paleness, fatigue and rapid pulse because of anemia from fewer red blood cells
  • Chest pain
  • Trouble breathing
  • Enlarged spleen
  • Yellowing of eyes and skin (jaundice)
  • Delayed growth or onset of puberty
  • Abdominal (belly) pain
  • Infections, including urinary tract infections and pneumonia
  • Stroke

How is sickle cell disease treated?

  • Transfusions of red blood cells — are given every three to four weeks. This is the main treatment for fighting the strokes that can occur in children with sickle cell disease.
    • Complications can include iron overload, infection, antibody formation and unwanted transfusion reactions that can mimic symptoms, such as anemia.
  • Hydroxyurea — is a drug that is used to help reduce cell sickling as well as many of the major complications of sickle cell disease
    • Hydroxyurea is a once-daily medication taken by mouth.
    • The treatment goal is to boost normal hemoglobin levels by increasing the patient’s level of fetal hemoglobin (HbF), which normally decreases very quickly after birth.
  • Stem cell transplant — is the only cure for sickle cell disease.
    • The cure was first performed successfully in 1983, when a St. Jude patient with leukemia and sickle cell disease received a bone marrow transplant. The procedure cured both diseases.
    • During a transplant, the patient’s bone marrow is replaced with marrow from a person who does not have sickle cell disease. The transplanted cells grow into healthy blood cells.
    • Even though bone marrow transplant is a cure for sickle cell disease, its use is limited because of the problems in finding a matched donor, and the complications associated with transplant.
    • Some types of stem cell transplants may be called “bone marrow transplants” because the cells come from the donor’s bone marrow.
  • Other treatments include antibiotics, pain medicines and psychological counseling. These are used mainly to treat side effects of sickle cell anemia.

What are the survival rates for sickle cell disease?

  • Overall, the lives of people with any type of sickle cell disease are typically 20 to 30 years shorter than those of people who do not have it.
  • Formerly, 50 percent of sickle cell disease patients did not live beyond age 20, and most did not survive to age 50. Today, with early diagnosis and use of recently developed treatments, the life expectancy of children with sickle cell disease has increased 98 percent. For example, people with hemoglobin SS may live to age 50 or older.

Why choose St. Jude for your child’s sickle cell disease 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 a deep and longstanding commitment to children with sickle cell disease. Scientists at the hospital have been researching sickle cell disease since the institution opened in 1962. The first research grant ever received by the hospital was for the study of sickle cell disease.
  • St. Jude has several labs that perform research in sickle cell disease. In these labs, St. Jude researchers not only perform basic research, but also use translational research to 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 determine the drug’s impact on protecting organs against damage from the disease.
  • The St. Jude-Methodist Sickle Cell Disease Transition Clinic has been created to help 18-year-olds make the leap from St. Jude to adult-care facilities of their choice. The clinic is aimed at reversing poor transition rates among teens and young adults. 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.
  • A new study looking at long-term outcomes in sickle cell disease begins in 2014. Called SCCRIP (Sickle Cell Clinical Research and Intervention Program), the study will look at the long-term effects of the disease and its treatments. Results from the study will help scientists design new sickle cell disease therapies.
  • A St. Jude support program helps children with sickle cell disease sail through their MRI scans without anesthesia. Children who undergo targeted preparation and support procedures before MRI testing are more likely to complete the test without general anesthesia than those who do not receive preparation.

Associated Clinical Trials

EPSTRV: Retroviral Vector Mediated Globin Gene Transfer to Correct Sickle Cell Anemia or Thalassemia

Experimental Evaluation of the Potential to Correct the Pathophysiology of Sickle Cell Anemia or Thalassemia by Retroviral Vector Mediated Globin Gene Transfer

Diseases Treated:

Sickle cell anemia

Eligibility:

This is a non-therapeutic clinical trial that is only open to St. Jude patients.

  • Participant’s age is equal to or greater than two (2) years old
  • No active sickle cell disease
  • Adequate blood counts
View Trial

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
View Trial

MEMREAD: Working Memory and School Readiness in Preschool-aged Children with Sickle Cell Disease: Family and Environmental Factors

Diseases Treated:

Sickle cell disease

Eligibility:

This is a non-therapeutic clinical trial open to St. Jude patients only.

View Trial

MIDAS: Massive Iron Overload Assessment

Diseases Treated:

Iron overload 

Eligibility:

This is a non-therapeutic clinical trial that is only open to St. Jude patients.

  • Participant has a history of 12 or more lifetime erythrocyte transfusions.
  • Participant has a need for liver iron content assessment.
  • No contra-indication to having an MRI exam, such as the presence of metal in the body.
View Trial

PMVOC: Pain Management of Vaso-Occlusive Crisis in Children and Young Adults with Sickle Cell Disease

Diseases Treated:

Sickle Cell Disease

Eligibility:

This is a non-therapeutic clinical trial that is only open to St. Jude patients.

View Trial

SCCRIP: Sickle Cell Research and Intervention Program

Diseases Treated:

Sickle cell disease

Eligibility:

This is a non-therapeutic clinical trial that is only open to St. Jude patients.
  • Participant has a diagnosis of Sickle Cell Disease of any genotype.
View Trial

TADO: A Study of Prasugrel in Pediatric Participants With Sickle Cell Disease (SCD)

A Phase 3 Double-Blind, Randomized, Efficacy and Safety Comparison of Prasugrel and Placebo in Pediatric Patients with Sickle Cell Disease

Diseases Treated:

Sickle cell disease

Eligibility:

  • Participant with Sickle Cell Disease (laboratory determined HbSS or HbS beta zero thalassemia) who have had >2 episodes of Vaso-occlusive crisis in the past year. 
  • Participants >2 years of age and < 18 years of age.
View Trial

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