Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).
We report two Italian-Canadian families with α+-thalassemia (α+-thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.|b Department of Pathology and Molecular Medicine , McMaster University , Hamilton , Ontario , Canada.
John S
JS
Waye
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.
Barry
B
Eng
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.
Meredith
M
Hanna
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.
Betty-Ann
BA
Hohenadel
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.
Lisa
L
Nakamura
a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.
Lynda
L
Walker
D002170:Canada / Q000453:epidemiology; D018387:Codon, Initiator / Q000235:genetics*; D016384:Consensus Sequence / Q000235:genetics; D005190:Family; D006442:Glycated Hemoglobin / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics; D006801:Humans; D007558:Italy / Q000208:ethnology; D009154:Mutation; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics
D018387:Codon, Initiator; D006442:Glycated Hemoglobin; D006443:Hemoglobin A2; D055542:alpha-Globins
HBA1 gene; initiation codon; point mutations; α-Thalassemia (α-thal)