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Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program
F E Shafer1, F Lorey, G C Cunningham
1Temple University School of Medicine, Philadelphia, Pennsylvania, USA.
Insights
California
Area of Science:
- Genetics
- Public Health
- Biochemistry
Background:
- Sickle cell disease and hemoglobinopathies are significant public health concerns.
- Newborn screening programs are crucial for early detection and intervention.
- California's program addresses the need for comprehensive hemoglobinopathy screening.
Purpose of the Study:
- To evaluate the success of a 4-year newborn screening program for sickle cell disease and hemoglobinopathies in California.
- To present data on the prevalence and outcomes of the screening program.
- To advocate for universal screening based on program findings.
Main Methods:
- Utilized high-pressure liquid chromatography for initial screening.
- Employed a confirmatory laboratory with DNA technology and electrospray mass spectrometry.
- Implemented a follow-up strategy with regional nurses for patient tracking and treatment enrollment.
Main Results:
- Screened 2 million infants, diagnosing 492 with sickle cell disease.
- Identified 290 cases of hemoglobin SS, 143 of hemoglobin SC, and 47 of S beta+thalassemia.
- Highlighted significant numbers of undiagnosed non-black infants with sickle cell disease and trait under targeted screening models.
Conclusions:
- Universal newborn screening for sickle cell disease and hemoglobinopathies is more effective than targeted approaches.
- The California program demonstrates the feasibility and success of universal screening.
- Data supports the expansion of universal screening to identify all affected infants, regardless of ethnicity.
Purpose:
In this article we describe the success of a unique newborn screening program for sickle cell disease and other hemoglobinopathies. We will present and discuss 4 years of experience from the California Newborn Hemoglobinopathy Screening Program.
Methods:
Several aspects that ensure the success of the program will be reviewed. These aspects include (a) the use of high-pressure liquid chromatography as the initial screening technique, (b) a confirmatory testing laboratory that incorporates DNA technology and innovative protein analysis using electrospray mass spectrometry, and (c) a complex follow-up strategy that employs regional nurses to track positive results and ensure timely enrollment of infants into treatment systems.
Results:
Of these 2 million infants screened, 492 were diagnosed with some form of sickle cell disease; 290 (58.9%) were diagnosed with hemoglobin SS, 143 (29.0%) were diagnosed with hemoglobin SC, and 47 (9.5%) were diagnosed with S beta+thalassemia.
Conclusion:
The prevalence and ethnicity data presented here demonstrate the ineffectiveness of targeted screening and justify universal screening. Had targeted screening been performed in California during the past 4 years, 58 nonblack infants with sickle cell disease would have gone undiagnosed, and 6,921 nonblack infants with sickle cell trait would not have been identified.