De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.
We present a case of beta-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiation codon (ATG-->AAG) which should give rise to beta(0)-thalassemia trait. The possibility of non-paternity was excluded, indicating that the novel mutation was the result of a de novo event. A review of the literature indicates that mutations involving the beta-globin gene initiation codon can give rise to a more severe phenotype than is generally associated with most other beta(+) or beta(0) mutations.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Eng
B
B
Patterson
M
M
Barr
R D
RD
Chui
D H
DH
D000293:Adolescent; D000328:Adult; D018387:Codon, Initiator / Q000235:genetics*; D005060:Europe; D005260:Female; D005914:Globins / Q000235:genetics*; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
D018387:Codon, Initiator; D005914:Globins