Caring for Your Child with Sickle Cell Disease
The main manifestations of sickle cell disease are related to both the abnormal shape of sickle RBCs and their tendency to cause blockage/occlusion of small blood vessels. Sickle cells are prone to hemolysis (break down), shortening their lifespan, thus causing low blood count or anemia. Sickle cells are removed from the blood by the organ called the spleen, which also functions to fight infection: the spleen in children with sickle cell disease generally fails early in life, causing infants and young children with sickle cell disease to be susceptible to serious bacterial infection. Sickle cells promote vaso-occlusion of small blood vessels, depriving the tissue of vital blood and oxygen, causing acute pain crises, most commonly in the bones. In infants and young children with sickle cell disease, painful swelling of the hands and feet (dactylitis) is often the first episode of pain crisis. Chronic pain can result from nerve injury and nerve inflammation. Sickled cells can damage the lining of blood vessels, causing blood cells and proteins to adhere, which predisposes to the blockage of flow of blood and oxygen to vital organs like the brain and an increased risk of stroke. Occlusion of small blood vessels in the retina causes damage from lack of oxygen, which can lead to loss of visual acuity and retinal detachment. Sickle cells can accumulate in the spleen (“splenic sequestration”), which can cause more profound anemia by rapidly dropping the blood count. The increased breakdown of sickle cells and the turnover of hemoglobin predisposes to the increased production of bilirubin in the liver, gallstones, and obstruction/infection in the gall bladder (cholecystitis). The decreased flow of blood and oxygen to the brain can predispose not only to stroke, but to developmental delay, learning disorders, educational and vocational impairment, and neuropsychiatric issues like depression and anxiety. Acute chest syndrome is a poorly understood complication of sickle cell disease, producing shortness of breath and chest pain, likely caused by a constellation of factors including infection, low oxygen, and chest inflammation. Chronic blockage of small blood vessels supplying the lung can cause an elevation in lung pressures (pulmonary hypertension), which can cause shortness of breath, fatigue, and strain on the heart. Over time, people with sickle cell disease develop impaired kidney function, typically impacting the ability of the kidney to concentrate urine, which results in excessive daytime urination and nighttime bedwetting, and may ultimately result in renal failure.
The management of sickle cell disease includes:
- Treatment with prophylactic antibiotics to prevent severe bacterial infection, particularly from pneumococcus. Penicillin is given twice daily beginning in early infancy and continuing through at least age 5yr. Some centers recommend daily penicillin until age 18yr or longer.
- Routine vaccination according to the American Academy of Pediatrics and the ACIP schedule. Because of their increased susceptibility to invasive pneumococcal disease, all infants with sickle cell disease should receive the complete series of the 13-valent pneumococcal vaccine starting at age 2 months, and supplemental vaccination with the 23-valent pneumococcal vaccine at age 2yr, with a second dose at age 5 yr.
- Aggressive management of any illness involving fever, cough, chest pain etc.
- Yearly screening of urine and blood pressure beginning in our practice at age 3yr.
- Yearly screening of the eyes by a pediatric ophthalmologist beginning by age 10yr.
- Yearly screening for abnormal blood flow in the large blood vessels in the brain, using transcranial doppler imaging, from ages 2yr-16yr. Increased velocities reflect narrowing and/or damage to the blood vessels, which increases the risk for stroke.
- Transfusion of normal red blood cells allows normal hemoglobin to better deliver oxygen to the body and diminish blood vessel occlusion. Routine chronic transfusion therapy in children with sickle cell disease may be indicated in those with abnormal transcranial doppler imaging to prevent stroke, in children who have already had stroke, and in children with recurrent severe pain crises. This treatment carries with it the risk of chronic iron overload, and may need to be treated with iron chelators to prevent damage to tissues like the liver and heart.
- Emergency transfusion is indicated for acute anemia (drop from baseline), which may result from parvovirus infection, worsened hemolysis from sepsis, or sequestration of blood in the liver or spleen. Emergency transfusion is also indicated in the treatment of acute chest crisis with low blood oxygen, and in case of stroke. Transfusion prior to surgery and general anesthesia reduces perioperative complications in people with sickle cell disease.
- Management of acute pain crises with analgesics (NSAIDS like ibuprofen for mild episodes, opioids like oxycodone for more significant episodes) and hydration. The goals for providing adequate pain relief to improve function and quality of life must be balanced by the need to minimize the risk of opioid addiction.
- Non-pharmacological approaches to manage pain in people with sickle cell disease include psychological and cognitive therapy, occupational and physical therapy, aquatherapy, massage therapy, acupuncture, meditation, and self-hypnosis.
- Sickle hemoglobin cells are more likely to take on the characteristic sickle shape under conditions of low oxygen and acidosis, making hydration, exercise, good sleep, and a healthy diet rich in fruits and vegetables important adjunctive strategies in people with sickle cell disease.
- Hydroxyurea is a medication that raises the levels of a non-sickling hemoglobin called fetal hemoglobin, improving blood flow, lowering the incidence of pain crises, reducing blood vessel occlusion and its complications (stroke etc.), reducing the need for transfusion, and protecting against other complications in people with sickle cell disease. Hydroxyurea has traditionally been offered to patients who have had multiple severe pain crises, stroke, or other significant complications with sickle cell disease, though pediatric hematologists are now offering hydroxyurea earlier to prevent those complications.
- Bone marrow transplantation is a treatment that replaces the stem cells in the bone marrow of a patient with sickle cell disease with normal stem cells, effectively curing sickle cell disease. The difficulty finding a suitable donor, the cost, and the potential complications of this technology make it uncommonly used as a routine treatment at this time.
- Emerging therapeutics include gene therapy, a process whereby scientists collect the stem cells from a patient with sickle cell disease and replace the genetically altered HBB gene (associated with sickle cell disease) with a normal gene for hemoglobin production, curing the sickle cell disease. An alternative therapy is to insert a vector/messenger into the patient’s DNA that directs their cells to re-produce fetal hemoglobin, which does not sickle, curing the sickle cell disease.
Your CMA physicians and advanced nurse practitioners will work closely with your pediatric hematologist and other specialists to be sure your child is getting the best care possible. Here is a list of local resources for you and your family:
Sickle Cell Disease Association of America sicklecelldisease.org 800 421-8453
American Sickle Cell Anemia Association ascaa.org
American Society of Hematology’s Sickle Cell Disease Initiative at cdc.gov
Sickle Cell Disease Association of Broward County sicklefreebroward.org
Sickle Cell Disease Association of Florida scdaflorida.com
Broward Health Ft. Lauderdale Dr. Hector Rodriguez-Cortes 954-355-4527
Joe DiMaggio Children’s Hospital Dr. Iftikhar Hanif 855-495-1430







