Biomaterial Database

History and current status of newborn screening for hemoglobinopathies. 2010

Jane M Benson, and Bradford L Therrell

Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

The impact of hemoglobinopathies on healthcare in the United States, particularly sickle cell disease (SCD), has been significant. Enactment of the Sickle Cell Anemia Control Act in 1972 significantly increased the federal interest in the SCDs and other hemoglobinopathies. Only since May 1, 2006, have all states required and provided universal newborn screening for SCD despite a national recommendation to this effect in 1987. In this article, we review the history of screening for SCD and other hemoglobinopathies, along with federal and state activities that have contributed to improved health outcomes for patients with SCD, as well as current newborn screening practices. We also chronicle the federal activities that have helped to shape and to refine laboratory screening and diagnostic proficiency. Finally, we review molecular testing strategies that have evolved and outline their possible future impacts on disease detection and outcome improvement.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D011785	Quality Assurance, Health Care	Activities and programs intended to assure or improve the quality of care in either a defined medical setting or a program. The concept includes the assessment or evaluation of the quality of care; identification of problems or shortcomings in the delivery of care; designing activities to overcome these deficiencies; and follow-up monitoring to ensure effectiveness of corrective steps.	Quality Assessment, Health Care,Health Care Quality Assessment,Health Care Quality Assurance,Healthcare Quality Assessment,Healthcare Quality Assurance,Quality Assessment, Healthcare,Quality Assurance, Healthcare,Assessment, Healthcare Quality,Assessments, Healthcare Quality,Assurance, Healthcare Quality,Assurances, Healthcare Quality,Healthcare Quality Assessments,Healthcare Quality Assurances,Quality Assessments, Healthcare,Quality Assurances, Healthcare
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000755	Anemia, Sickle Cell	A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.	Hemoglobin S Disease,HbS Disease,Sickle Cell Anemia,Sickle Cell Disease,Sickle Cell Disorders,Sickling Disorder Due to Hemoglobin S,Anemias, Sickle Cell,Cell Disease, Sickle,Cell Diseases, Sickle,Cell Disorder, Sickle,Cell Disorders, Sickle,Disease, Hemoglobin S,Hemoglobin S Diseases,Sickle Cell Anemias,Sickle Cell Diseases,Sickle Cell Disorder
D014481	United States	A country in NORTH AMERICA between CANADA and MEXICO.
D015997	Neonatal Screening	The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.	Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant
D049673	History, 20th Century	Time period from 1901 through 2000 of the common era.	20th Century History,20th Cent. History (Medicine),20th Cent. History of Medicine,20th Cent. Medicine,Historical Events, 20th Century,History of Medicine, 20th Cent.,History, Twentieth Century,Medical History, 20th Cent.,Medicine, 20th Cent.,20th Cent. Histories (Medicine),20th Century Histories,Cent. Histories, 20th (Medicine),Cent. History, 20th (Medicine),Century Histories, 20th,Century Histories, Twentieth,Century History, 20th,Century History, Twentieth,Histories, 20th Cent. (Medicine),Histories, 20th Century,Histories, Twentieth Century,History, 20th Cent. (Medicine),Twentieth Century Histories,Twentieth Century History
D049674	History, 21st Century	Time period from 2001 through 2100 of the common era.	21st Century History,21st Cent. History (Medicine),21st Cent. History of Medicine,21st Cent. Medicine,Historical Events, 21st Century,History of Medicine, 21st Cent.,History, Twenty-first Century,Medical History, 21st Cent.,Medicine, 21st Cent.,21st Cent. Histories (Medicine),21st Cent. Medicines,21st Century Histories,Cent. Histories, 21st (Medicine),Cent. History, 21st (Medicine),Cent. Medicine, 21st,Cent. Medicines, 21st,Century Histories, 21st,Century Histories, Twenty-first,Century History, 21st,Century History, Twenty-first,Histories, 21st Cent. (Medicine),Histories, 21st Century,Histories, Twenty-first Century,History, 21st Cent. (Medicine),History, Twenty first Century,Medicines, 21st Cent.,Twenty-first Century Histories,Twenty-first Century History