title: Two new alpha-thalassemia frameshift mutations.
abstract: alpha-Thalassemia (thal) is common all over the world. Most of the mutations encountered are of the deletional type. We now report two frameshift alpha-thal mutations: a novel alpha1-globin gene deletion at codon 62 (GTG -->-TG) found in an African American man, and a second report on an alpha2-globin gene deletion at codon 22 (GGC-->GG -) found in a Hispanic girl.
authors.affiliation: Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA.
authors.forename: Hong-Yuang
authors.initials: HY
authors.lastname: Luo
authors.forename: Adeboye H
authors.initials: AH
authors.lastname: Adewoye
authors.forename: Monika
authors.initials: M
authors.lastname: Pilichowska
authors.forename: Michael Yunlong
authors.initials: MY
authors.lastname: Li
authors.forename: Raveen K
authors.initials: RK
authors.lastname: Basran
authors.forename: Martin H
authors.initials: MH
authors.lastname: Steinberg
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D044383:Black People; D002648:Child; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D006630:Hispanic or Latino; D006801:Humans; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*; D001741:Black or African American