title: DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.
abstract: Molecular genetic confirmatory testing with polymerase chain reaction amplification is integral to neonatal hemoglobinopathy screening programs. In this study, we demonstrate applicability of polymerase chain reaction-based testing for the common deletions in blacks responsible for hereditary persistence of fetal hemoglobin. This approach will provide rapid diagnostic clarification in newborn screening follow-up.
authors.affiliation: Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital at UCLA, and Molecular Biology Institute, UCLA, Los Angeles, California 90095-1752, USA. emccabe@mednet.ucla.edu
authors.forename: Urvashi
authors.initials: U
authors.lastname: Bhardwaj
authors.forename: Yao-Hua
authors.initials: YH
authors.lastname: Zhang
authors.forename: Desirée S
authors.initials: DS
authors.lastname: Jackson
authors.forename: George R
authors.initials: GR
authors.lastname: Buchanan
authors.forename: Bradford L
authors.initials: BL
authors.lastname: Therrell
authors.forename: Linda L
authors.initials: LL
authors.lastname: McCabe
authors.forename: Edward R b
authors.initials: ER
authors.lastname: McCabe
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D017353:Gene Deletion; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening; D016133:Polymerase Chain Reaction; D011247:Pregnancy
chemical_list: D006451:Hemoglobin, Sickle; D005914:Globins; D005319:Fetal Hemoglobin