Newborn Screening for Sickle Cell Disease4 Years of Experience from California's Newborn Screening Program
作者:
Frank Shafer,
Fred Lorey,
George Cunningham,
Catherine Klumpp,
Elliott Vichinsky,
Bertram Lubin,
期刊:
Journal of Pediatric Hematology/Oncology
(OVID Available online 1996)
卷期:
Volume 18,
issue 1
页码: 36-41
ISSN:1077-4114
年代: 1996
出版商: OVID
关键词: Newborn screening;Sickle cell disease;HPLC;Electrospray mass spectrometry
数据来源: OVID
摘要:
PurposeIn 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.MethodsSeveral 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.ResultsOf 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 Sβ+thalasemia.ConclusionThe 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.
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