Sickle cell disease is an inherited blood disease that affects red blood cells, changing their shape and texture. This change in red blood cells prevents blood from flowing properly in the body and can affect organ systems and lead to chronic pain. Symptoms and complications can increase with age.
Our specialized team partners with the patient and their family to focus on self-care education, surveillance, and management of the disease’s complications. They work closely with Smilow Cancer Hospital’s adult hematology specialists to ensure a smooth transition from pediatric to adult care. Our physicians pioneered the diagnosis and treatment of pulmonary complications associated with sickle cell disease and launched the first national clinical trial for therapy.
What causes sickle cell disease?
Sickle cell disease is caused by a mutation in the HBB gene that is inherited from both parents. If only one parent passes a mutated HBB gene, the person will only be a carrier of the sickle cell gene and will not have active symptoms.
What are the symptoms of sickle cell disease?
A baby with sickle cell disease may not experience symptoms until 4 – 6 months of age. Symptoms in children can vary, but may include:
- Abdominal pain
- Anemia
- Body aches
- Fatigue
- Jaundice
- Pain in fingers, toes, arms, or legs
- Rapid heartbeat
- Shortness of breath
- Swollen hands or feet
- Vision problems
How is sickle cell disease diagnosed?
Sickle cell disease is diagnosed through a blood test. Often newborns are screened after birth or, if there is a family history, testing can be done in utero through amniocentesis or chorionic villus sampling. If someone was not screened at birth or diagnosed but is suspected to have sickle cell disease, certain tests can be performed, including:
- Complete blood count
- DNA testing
- Hemoglobin electrophoresis
- High-performance liquid chromatography
What is the treatment for sickle cell disease?
Treatment for sickle cell disease is aimed at pain management and maintenance therapies. These treatments include:
- Blood transfusions
- Bone marrow (stem cell) transplant
- Certain vaccinations
- Gene therapies
- Prescription medications
In addition to traditional approaches to pain management, patients receive instruction in complementary, non-pharmaceutical techniques such as diaphragmatic breathing taught with biofeedback, guided imagery, distraction, and cognitive behavior strategies for the management of emotional distress.
How can stem cell transplant help sickle cell disease?
The bone marrow in a person with sickle cell disease produces red blood cells that contain an abnormal form of hemoglobin, leading to complications. In a bone marrow (stem cell) transplant, the patient’s bone marrow is replaced with blood-forming stem cells from a donor who does not have sickle cell disease. This can help to stop further sickle cell disease complications from developing.
