A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype.
The beta-globin gene of 306 newly diagnosed beta-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a beta(+)-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature termination signal at codon 52. No truncated beta-globin or abnormal hemoglobin (Hb) was identified.
Cornut
Gilbert
G
Department of Haematology and Transfusion Medicine, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.
Weng
Xiaoduan
X
Robin
Louise
L
Lavoie
Catherine
C
Marchand
Sylvain
S
Soulières
Denis
D
D000328:Adult; D018912:Arabs / Q000235:genetics; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins