Two new alpha-thalassemia frameshift mutations.
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.
Luo
Hong-Yuang
HY
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA.
Adewoye
Adeboye H
AH
Pilichowska
Monika
M
Li
Michael Yunlong
MY
Basran
Raveen K
RK
Steinberg
Martin H
MH
Chui
David H K
DH
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