title: Three new alpha-thalassemia point mutations ascertained through newborn screening.
abstract: We report three new alpha-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation is a single nucleotide deletion (-A) that abolishes the translation initiation codon of the alpha2-globin gene, detected in a newborn of Hmong ethnicity who carried the Southeast Asian alpha(0)-thal deletion (alpha(T)alpha/- -(SEA)). The second mutation, a frameshift caused by a single nucleotide deletion in exon 2 of the alpha1-globin gene [codon 78 (-C)], was detected in a Black/Chinese newborn who also carried the Southeast Asian alpha0-thal deletion (alphaalpha(T)/- -(SEA)). The third mutation was a frameshift in exon 3 of the alpha2-globin gene, codons 113/114 (-C). This mutation was detected in a newborn who carried the 3.7 kb alpha(+)-thal deletion (alpha(T)alpha/-alpha(3.7)).
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Ontario, Canada.
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Margie
authors.initials: M
authors.lastname: Patterson
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Carolyn
authors.initials: C
authors.lastname: Hoppe
authors.forename: Mahin
authors.initials: M
authors.lastname: Azimi
authors.forename: Helen
authors.initials: H
authors.lastname: Lee
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation; D005838:Genotype; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D017354:Point Mutation; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D006455:Hemoglobins, Abnormal; D005914:Globins; C030448:hemoglobin Bart's