Three new beta-globin gene promoter mutations identified through newborn screening.
We report three new beta-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/beta(+)-thalassemia (thal) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at positions -31 to -28 relative to the mRNA Cap site. Two cases involved single base substitutions at positions -25 (G-->C) and -32 (C-->T). The remaining case involved the deletion of two bases (-AA) at positions -27 and -26.
Eng
Barry
B
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Walker
Lynda
L
Nakamura
Lisa M
LM
Hoppe
Carolyn
C
Azimi
Mahin
M
Lee
Helen
H
Waye
John S
JS
D001483:Base Sequence; D044383:Black People / Q000235:genetics; D017124:Conserved Sequence; D005006:Ethnicity; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006441:Hemoglobin A / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006630:Hispanic or Latino; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D015997:Neonatal Screening; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
D006451:Hemoglobin, Sickle; D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin