title: Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) causing nondeletional α-thalassemia in a Chinese family.
abstract: We report a novel α-globin gene point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a GTG>GCG substitution at codon 62 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China. canliao09@yahoo.cn
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Hai-Shen
authors.initials: HS
authors.lastname: Tang
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D002681:China; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D019075:Electrophoresis, Capillary; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins