ABSTRACT
Sickle cell disease is an inherited disorder of hemoglobin that causes red cell sickling and impaired oxygenation under a variety of stressful conditions. It is a multi-organ disease that can lead to impaired immunity, organ damage over time and decreased life expectancy if not properly managed. With an increasing focus on comprehensive and preventive care through routinely scheduled clinic visits, children with sickle cell disease can thrive, and the risk of lifelong morbidity or early mortality can be successfully mitigated
A newborn screening program is integral to comprehensive care to identify infants with sickle cell disease and confirm their genotypic diagnosis. Infants with sickle cell disease can then be started on penicillin as soon as possible for prophylaxis against invasive and encapsulated bacterial infections due to splenic hypo-function. Vaccination against pneumococcal and meningococcal organisms should be offered as part of routine childhood immunization series to offer added protection against these invasive organisms. Family education and counseling are also key in identifying early signs of complications that require further management, such as high-grade fever, signs of anemia, dehydration and splenic enlargement or sequestration
Early initiation of hydroxyurea, a fetal hemoglobin inducer, has also been shown to significantly decrease complications and long-term organ damage in children. Hydroxyurea may be started as early as nine months of age to reduce frequency and severity of vaso-occlusive crises and reduce risk of stroke, nephropathy and cardiomyopathy. Hydroxyurea also has anti-inflammatory properties that can mitigate the endothelial damage and inflammation that results in sickle-related vasculopathy. Myelosuppression from hydroxyurea can be monitored with routine visits and bloodwork
Comprehensive care should also include screening for life-altering complications. In children with homozygous hemoglobin S disease, transcranial Doppler ultrasound screening can be used in children as young as two years old to monitor abnormal flow velocities in intracranial vessels and assess risk for stroke. Sickle nephropathy can be screened for by assessing urine annually for proteinuria and microalbuminuria. Cardiomyopathy can be screened for during routine cardiovascular exams, as well as with annual or biannual echocardiograms. In addition, children with compound heterozygous hemoglobin SC disease are at higher risk for retinal vascular complications that may lead to retinal detachment and vision loss if not identified early.
