title: A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.
abstract: In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity. This mutation caused no severe hematological abnormalities in the carriers. From the nature of substituted residues in α2-globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia.
authors: Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Narges Medical Genetics and PND Laboratory, Kianpars, Ahvaz, Iran. Shariatig@yahoo.com.
authors: Mohammad
authors: M
authors: Hamid
authors: Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
authors: Hanieh
authors: H
authors: Bokharaei Merci
authors: Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Hamid
authors: H
authors: Galehdari
authors: Narges Medical Genetics and PND Laboratory, Kianpars, Ahvaz, Iran, Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Ali Hossein
authors: AH
authors: Saberi
authors: Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Bijan
authors: B
authors: Kaikhaei
authors: Narges Medical Genetics and PND Laboratory, Kianpars, Ahvaz, Iran.
authors: Marziye
authors: M
authors: Mohammadi-Anaei
authors: Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Ahmad
authors: A
authors: Ahmadzadeh
authors: Narges Medical Genetics and PND Laboratory, Kianpars, Ahvaz, Iran, Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Gholamreza
authors: G
authors: Shariati
mesh_terms: D018389:Codon, Nonsense; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D006443:Hemoglobin A2