title: A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype.
abstract: 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.
authors.affiliation: Department of Haematology and Transfusion Medicine, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada.
authors.forename: Gilbert
authors.initials: G
authors.lastname: Cornut
authors.forename: Xiaoduan
authors.initials: X
authors.lastname: Weng
authors.forename: Louise
authors.initials: L
authors.lastname: Robin
authors.forename: Catherine
authors.initials: C
authors.lastname: Lavoie
authors.forename: Sylvain
authors.initials: S
authors.lastname: Marchand
authors.forename: Denis
authors.initials: D
authors.lastname: Soulières
mesh_terms: 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*
chemical_list: D003062:Codon; D005914:Globins