Sickle Cell Disease

Sickle cell disease (SCD) is a heterogeneous group of prevalent, potentially life-threatening, chronic disorders of hemoglobin (Hgb). Hgb polymerization underlies the pathophysiology of SCD. Children who have SCD benefit from regular health maintenance visits with a pediatric hematologist and a primary care pediatrician. The high incidence of invasive pneumococcal disease (IPD) in SCD justifies newborn screening, daily prophylactic penicillin, and immunization with the pneumococcal conjugate and polysaccharide vaccines. Vaso-occlusive pain crises are the clinical hallmark of SCD and occur with increasing frequency through childhood. These episodes warrant aggressive treatment with analgesics and hydration and may be prevented with hydroxyurea (HU) therapy. Annual transcranial Doppler (TCD) screening for patients ages 2 to 16 years identifies those at high risk for acute stroke, and regular blood transfusions can reduce this risk greatly. Common indications for initiating HU therapy have been severe or frequent vaso-occlusive crises or acute chest syndrome, but this therapy may be considered in younger and less symptomatic patients. The prognosis for children with SCD has improved, with the vast majority surviving into adulthood, prompting a focus on improving the process of transition to adult care.