title: Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening.
abstract: The inheritance of sickle-cell anemia upon the background of the major beta-globin gene cluster haplotypes has been associated with differing risks for major organ failure, and more recently with response to hydroxyurea treatment. Early identification of beta-globin haplotypes in individuals with sickle-cell anemia may be a clinically useful prognostic factor for severity of disease expression. This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for beta-globin gene cluster haplotyping by the polymerase chain reaction.
authors.affiliation: University of Southern California Comprehensive Sickle Cell Center, Los Angeles, California 90033, USA.
authors.forename: A L
authors.initials: AL
authors.lastname: Hiti
authors.forename: L
authors.initials: L
authors.lastname: Zeng
authors.forename: Q
authors.initials: Q
authors.lastname: Xiang
authors.forename: F W
authors.initials: FW
authors.lastname: Lorey
authors.forename: D R
authors.initials: DR
authors.lastname: Powars
mesh_terms: D005374:Filtration; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D010209:Paper; D016133:Polymerase Chain Reaction / Q000379:methods; D013997:Time Factors
chemical_list: D005914:Globins