āProvider action sheet for sickle cell disease (SCD)āā
āPrintable PDF of this Action Sheetā
If the California Newborn Screening (NBS) Program has identified an infant in your care who has a screen-positive result for sickle cell disease (SCD), please see the accompanying screening test results.
What steps do you need to take?ā
- Consult with a California Childrenās Services Sickle Cell Disease/ Hemoglobinopathies Special Care Center (SCC) specialist. The screening methodology results in few false positives, but confirmatory testing is needed. The SCC specialist or the NBS Program Area Service Center (ASC) staff will order tests. The SCC specialist should contact the family to educate them and schedule a clinic visit. When the confirmatory testing is completed, the SCC specialist will determine the type of SCD and share it with the family.
- Contact the family to explain the positive newborn screening test result and tell them to expect the SCC specialist to contact them. For information on how best to communicate, consult the Health Resources & Services Administration Newborn Communication Guide (PDF) (or search online for āhrsaā āheritableā ācommunicationā).
- Review the accompanying, āFamily action sheet for sickle cell diseaseā with the family and ensure they understand. Remind the family that their infant was positive on a screen and more testing is needed. Emphasize that you, with ASC staff and the SCC specialist, will guide them through the next steps of confirmatory testing and follow-up services.
- Consider prescribing penicillin (125 mg PO BID) if the infantās appointment with the SCC specialist gets delayed; it should be started by 56 days (8 weeks), before the fetal Hemoglobin begins to wane.
- Advise parents to (1) follow the plan for confirmatory testing, (2) keep their infantās appointments with the SCC specialist, (3) give the infant penicillin when it is prescribed, and (4) seek immediate medical evaluation for a fever. The family should receive services from a multidisciplinary team of specialists, including genetic counseling.
Clinical informāation
SCD encompasses a group of disorders characterized by the presence of at least one hemoglobin S allele. The clinical manifestations of SCD result from intermittent episodes of microvascular occlusion leading to tissue ischemia and chronic hemolysis, both of which contribute to multiorgan dysfunction. Without prompt diagnosis and the initiation of prophylactic antibiotics and pneumococcal conjugate vaccination by 56 days of age (8 weeks), infants with SCD are vulnerable to life-threatening pneumococcal infections. Anyone can have SCD, not just African-American and Latinx populations.
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āQuestions?
For follow-up questions, please call your NBS Program Area Service Center.
For program questions, please email NBS Program staff at
NBS@cdph.ca.govā or visit the
NBS Program website.
California Department of Public Health
Ā© Genetic Disease Screening Program, 8/2023āāāāā