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A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene. 2014

Mohammad Hamid, and Hanieh Bokharaei Merci, and Hamid Galehdari, and Ali Hossein Saberi, and Bijan Kaikhaei, and Marziye Mohammadi-Anaei, and Ahmad Ahmadzadeh, and Gholamreza Shariati
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.

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.

UI MeSH Term Description Entries
D008297 Male Males
D005260 Female Females
D006443 Hemoglobin A2 An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia. A2, Hemoglobin
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017085 alpha-Thalassemia A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. Hemoglobin H Disease,Thalassemia-alpha,A-Thalassemia,Alpha Thalassemia,Disease, Hemoglobin H,Thalassemia alpha,Thalassemia, Alpha,alpha-Thalassemias
D018389 Codon, Nonsense An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. Codon, Termination, Premature,Codon, Unassigned,Mutation, Nonsense,Nonsense Codon,Nonsense Mutation,Premature Stop Codon,Unassigned Codon,Amber Nonsense Codon,Amber Nonsense Mutation,Nonsense Codon, Amber,Ochre Nonsense Codon,Ochre Nonsense Mutation,Opal Nonsense Codon,Opal Nonsense Mutation,Premature Termination Codon,Amber Nonsense Codons,Amber Nonsense Mutations,Codon, Amber Nonsense,Codon, Ochre Nonsense,Codon, Opal Nonsense,Codon, Premature Stop,Codon, Premature Termination,Codons, Amber Nonsense,Codons, Nonsense,Codons, Ochre Nonsense,Codons, Opal Nonsense,Codons, Premature Stop,Codons, Premature Termination,Codons, Unassigned,Mutation, Amber Nonsense,Mutation, Ochre Nonsense,Mutation, Opal Nonsense,Mutations, Amber Nonsense,Mutations, Nonsense,Mutations, Ochre Nonsense,Mutations, Opal Nonsense,Nonsense Codon, Ochre,Nonsense Codon, Opal,Nonsense Codons,Nonsense Codons, Amber,Nonsense Codons, Ochre,Nonsense Codons, Opal,Nonsense Mutation, Amber,Nonsense Mutation, Ochre,Nonsense Mutation, Opal,Nonsense Mutations,Nonsense Mutations, Amber,Nonsense Mutations, Ochre,Nonsense Mutations, Opal,Ochre Nonsense Codons,Ochre Nonsense Mutations,Opal Nonsense Codons,Opal Nonsense Mutations,Premature Stop Codons,Premature Termination Codons,Stop Codon, Premature,Stop Codons, Premature,Termination Codon, Premature,Termination Codons, Premature,Unassigned Codons

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