- Sickle cell disease (SCD) is an inherited disorder caused by a defect in the gene for β-globin, a component of hemoglobin, and is called a qualitative hemoglobinopathy. Patients can have one defective gene (sickle cell trait that is not a disease) or two defective genes (SCD).
- Although SCD usually occurs in persons of African ancestry, other ethnic groups can be affected. Multiple mutation variants result in different clinical manifestations.
- SCD involves multiple organ systems. Usual clinical signs and symptoms include anemia, pain, splenomegaly, and pulmonary symptoms. SCD can be identified by routine neonatal screening programs. Early diagnosis allows early comprehensive care.
- Patients with SCD are at risk for infection. Prophylaxis against pneumococcal infection reduces death during childhood in children with sickle cell anemia.
- Hydroxyurea decreases the incidence of painful episodes, but patients treated with hydroxyurea should be carefully monitored.
- Neurologic complications caused by vasoocclusion can lead to stroke. Screening with transcranial Doppler ultrasound to identify children at risk accompanied by chronic transfusion therapy programs have been shown to be beneficial in decreasing the occurrence of overt stroke in children with SCD.
- Patients with fever greater than 38.5°C (101.3°F) should be evaluated, and appropriate antibiotics administered immediately, including coverage for encapsulated organisms, especially pneumococcal organisms.
- Pain episodes can often be managed at home. Hospitalized patients require parenteral analgesics. Analgesic options include opioids, nonsteroidal antiinflammatory agents, and acetaminophen. The patient characteristics and the severity of the pain should determine the choice of agent and regimen.
- Patients with SCD should be followed regularly for healthcare maintenance issues and monitored for changes in organ functions.
On completion of the chapter, the reader will be able to:
Describe the hemoglobin abnormality in sickle cell disease (SCD).
Discuss the pathophysiology of SCD.
Discuss the role of newborn screening in SCD.
List the clinical presentations of SCD.
Describe the characteristics of acute and chronic complications in SCD.
Recommend the appropriate immunization schedule and recognize patients who are not up-to-date on immunization.
Recognize individuals who require penicillin prophylaxis.
Discuss the rationale of using HbF inducers in the management of SCD.
Determine the appropriate hydroxyurea regimen and monitoring requirements.
Discuss the role of transplantation in SCD.
Discuss the risks and benefits of chronic transfusions.
Select the appropriate empiric antibiotics for patients with SCD presented with fever.
Formulate plans for management of cute chest syndrome, priapism, and sickle cell pain episodes.
Design a pain management regimen for patients presented with pain episodes in both hospitalized and outpatient settings.
Discuss the pharmacoeconomic impact of SCD.
Understand the potential of developing genome-based drug therapy in SCD.
Sickle cell syndromes, which can be divided into sickle cell trait (SCT) and sickle cell disease (SCD), are a group of hereditary conditions characterized by the presence of sickle cell hemoglobin (HbS) in red blood cells (RBCs). SCT is the heterozygous inheritance of one normal β-globin gene producing HbA and one sickle gene producing HbS (HbAS) gene. Individuals with SCT are ...