title: A novel α-thalassemia frameshift mutation: codon 8 (-C).
abstract: We report a novel α-thalassemia (α-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (-C) in exon 1 of the α2-globin gene. This mutation causes an α(+)-thal phenotype.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
authors.forename: Hai-Shen
authors.initials: HS
authors.lastname: Tang
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D019075:Electrophoresis, Capillary; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D010641:Phenotype; D016133:Polymerase Chain Reaction; D040641:Quantitative Trait Loci / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins