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Hemoglobin
international journal for hemoglobin research
Volume 27, 2003 - Issue 3
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ORIGINAL ARTICLE

Hb Bronte or α93(FG5)Val→Gly: A New Unstable Variant of the α2‐Globin Gene, Associated with a Mild α+‐Thalassemia Phenotype

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Pages 149-159 | Received 14 Feb 2003, Accepted 20 Mar 2003, Published online: 07 Jul 2009

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Read on this site (8)

Rong-Yue Wang, Fan Jiang, Li-Li Xu & Dong-Zhi Li. (2021) Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation. Hemoglobin 45:2, pages 140-141.
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Agathe Horri-Naceur & David J. Timson. (2020) In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia. Hemoglobin 44:2, pages 89-103.
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Giovanna Cardiero, Romeo Prezioso, Sabrina Dembech, Francesca Del Vecchio Blanco, Clelia Scarano & Giuseppina Lacerra. (2016) Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)0-thalassemia. Hematology 21:5, pages 317-324.
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Giuseppina Lacerra, Clelia Scarano, Laura F. Lagona, Rosario Testa, Daniela G. Caruso, Emilia Medulla, Maria G. Friscia, Lucia Mastrullo, Mercedes Caldora, Romeo Prezioso, Carlo Gaudiano, Carmelo Magnano, Maria A. Romeo, Gennaro Musollino, Francesca Di Noce & Clementina Carestia. (2010) Genotype-Phenotype Relationship of the δ-Thalassemia and Hb A2 Variants: Observation of 52 Genotypes. Hemoglobin 34:5, pages 407-423.
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Joanne Traeger-Synodinos, Varvara Douna, Ioannis Papassotiriou, Alexandra Stamoulakatou, Vasilis Ladis, Tania Siahanidou, Irine Fylaktou & Emmanuel Kanavakis. (2010) Variable and Often Severe Phenotypic Expression in Patients with the α-Thalassemic Variant Hb Agrinio [α29(B10)Leu→Pro (α2)]. Hemoglobin 34:5, pages 430-438.
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Varvara Douna, Ioannis Papassotiriou, Anna Metaxotou-Mavrommati, Alexandra Stamoulakatou, Dimitra Liapi, Dimitrios Kampourakis, Amalia Tsilimigaki, Emmanuel Kanavakis & Joanne Traeger-Synodinos. (2008) Further Identification of The Hyperunstable α-Globin Chain Variant Hb Heraklion [codons 36/37 (–CCC); Pro→0 (α1)] in Greek Cases With Co-Inherited α+-Thalassemia Mutations. Hemoglobin 32:4, pages 379-385.
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Henri Wajcman, Jan Traeger-Synodinos, Ioannis Papassotiriou, Piero C. Giordano, Cornelis L. Harteveld, Véronique Baudin-Creuza & John Old. (2008) Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia. Hemoglobin 32:4, pages 327-349.
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Philippe Lacan, Martine Aubry, Nicole Couprie & Alain Francina. (2004) Two New α Chain Variants: Hb Die [α93(FG5)Val→Ala (α1)] and Hb Beziers [α99(G6)Lys→Asn (α1)]. Hemoglobin 28:1, pages 59-63.
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Articles from other publishers (9)

Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso & Giuseppina Lacerra. (2021) mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (−C)] and Sciacca [α1 cod109 (−C)]. Biomedicines 9:10, pages 1390.
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Giovanna Cardiero, Gennaro Musollino, Maria Grazia Friscia, Rosario Testa, Lucrezia Virruso, Caterina Di Girgenti, Mercedes Caldora, Rosario Colella Bisogno, Carlo Gaudiano, Giuseppe Manco & Giuseppina Lacerra. (2020) Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy. Genes 11:8, pages 870.
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Giovanna Cardiero, Clelia Scarano, Gennaro Musollino, Francesca Di Noce, Romeo Prezioso, Sabrina Dembech, Gaetana La Porta, Mercedes Caldora, Maria Grazia Bisconte, Rosario Colella Bisogno & Giuseppina Lacerra. (2017) Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants. The International Journal of Biochemistry & Cell Biology 91, pages 212-222.
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Maria Grazia Bisconte, Mercedes Caldora, Gennaro Musollino, Giovanna Cardiero, Angela Flagiello, Gaetana La Porta, Laura Lagona, Romeo Prezioso, Gabriele Qualtieri, Carlo Gaudiano, Emilia Medulla, Antonello Merlino, Piero Pucci & Giuseppina Lacerra. (2015) α-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.. PLOS ONE 10:3, pages e0115738.
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Gennaro Musollino, Gabriella Mastrolonardo, Romeo Prezioso, Leonilde Pagano, Paola Primignani, Clementina Carestia & Giuseppina Lacerra. (2012) Molecular mechanisms of a novel β-thalassaemia mutation due to the duplication of tetranucleotide ‘AGCT’ at the junction IVS-II/exon 3. Annals of Hematology 91:11, pages 1695-1701.
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Giuseppina Lacerra, Clelia Scarano, Gennaro Musollino, Rosario Testa, Romeo Prezioso, Daniela G. Caruso, Laura F. Lagona, Emilia Medulla, Maria G. Friscia, Carlo Gaudiano & Clementina Carestia. (2009) HbA2-Partinico or δ(A2)Pro→Thr, a new genetic variation in the δ-globin gene in cis to the β+ thal IVS-I-110 G>A, and the heterogeneity of δ-globin alleles in double heterozygotes for β- and δ-globin gene defects. Annals of Hematology 89:2, pages 127-134.
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Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 241 265 .
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. WeatherallDouglas R. Higgs. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 239 240 .
Giuseppina Lacerra, Mirella Fiorito, Gennaro Musollino, Francesca Di Noce, Maria Esposito, Vincenzo Nigro, Carlo Gaudiano & Clementina Carestia. (2004) Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE. Human Mutation 24:4, pages 338-349.
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