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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 3
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Short Communication

Two French Caucasian Families with Dominant Thalassemia-Like Phenotypes Due to Hyper Unstable Hemoglobin Variants: Hb Sainte Seve [Codon 118 (− T)] and Codon 127 [CAG→TAG (Gln→Stop])

Claude Préhu INSERM U 654, Hôpital Henri Mondor, Créteil, France; Biochimie Génétique, Hôpital Henri Mondor, Créteil, France
,
Serge Pissard INSERM U 654, Hôpital Henri Mondor, Créteil, France; Biochimie Génétique, Hôpital Henri Mondor, Créteil, France
,
Maha Al-Sheikh INSERM U 654, Hôpital Henri Mondor, Créteil, France; Biochimie Génétique, Hôpital Henri Mondor, Créteil, France
,
Catherine Le Niger Service d'Hématologie, CHU de Brest, Brest, France
,
Dora Bachir Unité de Génétique du Globule Rouge, AP-HP, Hôpital Henri Mondor, Créteil, France
,
Fréderic Galactéros Unité de Génétique du Globule Rouge, AP-HP, Hôpital Henri Mondor, Créteil, France
&
Dr. Henri Wajcman INSERM U 654, Hôpital Henri Mondor, Créteil, France; Biochimie Génétique, Hôpital Henri Mondor, Créteil, FranceCorrespondence[email protected]
 show all
Pages 229-233 | Received 21 Feb 2005, Accepted 22 Mar 2005, Published online: 07 Jul 2009

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Ekaterina Demidova, Valentina Salomashkina, Daria Selivanova, Evgeny Litvin, Natalia Karamyan, Svetlana Mann, Valentina Dvirnyk, Salia Maryina, Natal’ya Petrova, Lana Gorgidze, Anastasiya Peredel’skaya, Nina Tsvetaeva, Nataliya Smetanina & Vadim Surin. (2023) Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25. Hemoglobin 47:2, pages 97-101.
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Huan-Qing Chen, Li-Sha Wu, Fan Jiang & Dong-Zhi Li. (2021) Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report. Hemoglobin 45:5, pages 329-331.
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Sulav D. Atroshi, Nasir Al-Allawi, David H.K. Chui, Hossein Najmabadi & Rozhgar A. Khailany. (2021) A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (–TT)] in an Iraqi Kurd. Hemoglobin 45:3, pages 212-214.
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Manit Nuinoon, Orapan Thipthara & Suthat Fucharoen. (2019) Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2. Hemoglobin 43:1, pages 52-55.
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Jiajie Pu, Li Zhang, Xiaofeng Wei & Xiangmin Xu. (2018) Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual. Hemoglobin 42:3, pages 184-188.
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Antonio Amato, Maria Pia Cappabianca, Maria Perri, Ivo Zaghis, Fabrizio Mastropietro, Donatella Ponzini, Paola Di Biagio & Roberta Piscitelli. (2012) Hb Filottrano [codon 120 (–A)]: A Novel Frameshift Mutation in Exon 3 of the β-Globin Gene Causing Dominantly Inherited β-Thalassemia Intermedia. Hemoglobin 36:5, pages 480-484.
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Georgi D. Efremov. (2007) Dominantly Inherited β-Thalassemia. Hemoglobin 31:2, pages 193-207.
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Georgi H. Petkov, Liljana Simjanovska, Petranka Tchakarova & Georgi D. Efremov. (2005) Hb Stara Zagora: A New Hyper-Unstable Hemoglobin Causing Severe Hemolytic Anemia. Hemoglobin 29:4, pages 249-256.
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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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Ahmad A. Mallouh. 2012. Textbook of Clinical Pediatrics. Textbook of Clinical Pediatrics 3023 3027 .
Francesca Salvatori, Giulia Breveglieri, Cristina Zuccato, Alessia Finotti, Nicoletta Bianchi, Monica Borgatti, Giordana Feriotto, Federica Destro, Alessandro Canella, Eleonora Brognara, Ilaria Lampronti, Laura Breda, Stefano Rivella & Roberto Gambari. (2009) Production of β‐globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous β 0 39 thalassemia patients . American Journal of Hematology 84:11, pages 720-728.
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Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. WeatherallSwee Lay Thein & William G. Wood. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 323 356 .
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 321 322 .
Francesca Salvatori, Vera Cantale, Giulia Breveglieri, Cristina Zuccato, Alessia Finotti, Nicoletta Bianchi, Monica Borgatti, Giordana Feriotto, Federica Destro, Alessandro Canella, Laura Breda, Stefano Rivella & Roberto Gambari. (2009) Development of K562 cell clones expressing β-globin mRNA carrying the β 0 39 thalassaemia mutation for the screening of correctors of stop-codon mutations . Biotechnology and Applied Biochemistry 54:1, pages 41-52.
Crossref
Peng Yi, Fang Yu, Shengwei Huang, Cunli Zhong, Qiang Li, Yuan Yang, Wenqing Zhang, Chenglin Xiao & Xiangmin Xu. (2008) Identification of a novel frameshift mutation at codon 53 (−T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family. Blood Cells, Molecules, and Diseases 41:1, pages 56-59.
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G.D. Efremov, L. Simjanovska, D. Plaseska-Karanfilska, E. Stanojevic & G.H. Petkov. (2007) Hb Jambol: A New Hyperunstable Hemoglobin Causing Severe Hemolytic Anemia. Acta Haematologica 117:1, pages 1-7.
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B.I. Weinstein, B. Erramouspe, D.M. Albuquerque, D.M. Oliveira, E.M. Kimura, F.F. Costa & M.F. Sonati. (2006) Hb Florida: A novel elongated C‐terminal β‐globin variant causing dominant β‐thalassemia phenotype. American Journal of Hematology 81:5, pages 358-360.
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