title: Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
abstract: Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease) or lethal (Hb Bart's hydrops fetalis). We have developed a reliable, single-tube multiplex-polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of alpha-thalassemia. The assay allows simple, high throughput genetic screening for these common hematological disorders. (Blood. 2000;95:360-362)
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
authors.forename: S S
authors.initials: SS
authors.lastname: Chong
authors.forename: C D
authors.initials: CD
authors.lastname: Boehm
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
authors.forename: G R
authors.initials: GR
authors.lastname: Cutting
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000097:blood*; D017931:DNA Primers; D005820:Genetic Testing / Q000379:methods*; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D005810:Multigene Family; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005914:Globins; D004247:DNA