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.
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.
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 Sbêta+thalassemia.
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.
Mots-clés Pascal : Anémie hématie falciforme, Dépistage, Prévalence, Facteur risque, Distribution, Epidémiologie, Nouveau né, Homme, Californie, Etats Unis, Amérique du Nord, Amérique, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire
Mots-clés Pascal anglais : Sickle cell anemia, Medical screening, Prevalence, Risk factor, Distribution, Epidemiology, Newborn, Human, California, United States, North America, America, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0130112
Code Inist : 002B19A01. Création : 199608.