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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 2
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Second Titus H.J. Huisman Memorial Symposium: Recent Advances in Hemoglobinopathy, May 8–9, 2006, Adana, Turkey

Dominantly Inherited β-Thalassemia

Pages 193-207 | Published online: 07 Jul 2009

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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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Dilek Gürlek-Gökçebay, Sibel Akpinar-Tekgunduz, Haktan B. Erdem & Nese Yarali. (2019) A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child. Hemoglobin 43:4-5, pages 277-279.
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Monica Cannata, Filippo Cassarà, Margherita Vinciguerra, Paola Licari, Cristina Passarello, Filippo Leto, Carmen Lo Pinto, Lorella Pitrolo, Riccardo Ganci, Aurelio Maggio & Antonino Giambona. (2019) Double Heterozygosity for Hb Durham-N.C. (HBB: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (HBB: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype. Hemoglobin 43:3, pages 210-213.
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Michael W. Kent, Jennifer L. Oliveira, James D. Hoyer, Kenneth C. Swanson, Michelle L. Kluge, D. Brian Dawson, Xiayuan Liang, Tyler J. Winkler, Charles W. Breaux$suffix/text()$suffix/text(), Rachel LaCount & Christopher C. Silliman. (2014) Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant. Hemoglobin 38:1, pages 8-12.
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Chris Adhiyanto, Yasuhiro Yamashiro, Yukio Hattori, Takenori Nitta, Minako Hino, Maryam Matar, Fumiya Takagi & Masafumi Kimoto. (2013) A New β0-Thalassemia Mutation (codon 102, AAC>ATCAC) in Coexistence with a Heterozygous P4.2 Nippon Gene. Hemoglobin 37:3, pages 227-240.
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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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Inusha Panigrahi, Ram K. Marwaha & Ketan Kulkarni. (2009) The expanding spectrum of thalassemia intermedia. Hematology 14:6, pages 311-314.
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Inusha Panigrahi & Sarita Agarwal. (2008) Genetic determinants of phenotype in beta-thalassemia. Hematology 13:4, pages 247-252.
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Georgi H. Petkov & Georgi D. Efremov. (2007) Molecular Basis of β-Thalassemia and Other Hemoglobinopathies in Bulgaria: An Update. Hemoglobin 31:2, pages 225-232.
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Articles from other publishers (19)

Wolfgang Novak, Raute Sunder‐Plassmann, Jakob Berner, Stefan Köhrer, Petra Zeitlhofer, Oskar A. Haas, Julia Riedl, Leo Kager & Christian Sillaber. (2023) Dominant inherited β‐thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB . Pediatric Blood & Cancer.
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Ambarkova Vesna, Krmzova Tina & Nonkulovski Zoran. (2021) Thalassemia-Beta major-Case report. Archives of Hematology Case Reports and Reviews, pages 021-025.
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Ali T. TaherKhaled M. MusallamM. Domenica Cappellini. (2021) β-Thalassemias. New England Journal of Medicine 384:8, pages 727-743.
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Valeria Rizzuto, Tamara T. Koopmann, Adoración Blanco-Álvarez, Barbara Tazón-Vega, Amira Idrizovic, Cristina Díaz de Heredia, Rafael Del Orbe, Miriam Vara Pampliega, Pablo Velasco, David Beneitez, Gijs W. E. Santen, Quinten Waisfisz, Mariet Elting, Frans J. W. Smiers, Anne J. de Pagter, Jean-Louis H. Kerkhoffs, Cornelis L. Harteveld & Maria del Mar Mañú-Pereira. (2021) Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Frontiers in Physiology 12.
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Opeyemi S. Soremekun, Chisom Ezenwa, Itunuoluwa Isewon, Mahmoud Soliman, Omotuyi Idowu, Oyekanmi Nashiru & Segun Fatumo. (2020) Computational and drug target analysis of functional single nucleotide polymorphisms associated with Haemoglobin Subunit Beta (HBB) gene. Computers in Biology and Medicine 125, pages 104018.
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Masanaka Sugiyama, Satoshi Hamanoue, Jun‐ichi Nagai, Yoshinori Tsurusaki, Kenji Kurosawa, Mio Tanaka, Yukichi Tanaka & Hiroaki Goto. (2019) Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia. Pediatric Blood & Cancer 66:9.
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Narendra Malhotra, Prabhat Agrawal & Ruchika Garg. (2018) Thalassemia: An Indian Perspective. World Journal of Anemia 2:1, pages 11-15.
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Theodore H. Tulchinsky. 2018. Case Studies in Public Health. Case Studies in Public Health 423 442 .
Berndt Zur. (2016) Hemoglobin variants – pathomechanism, symptoms and diagnosis. LaboratoriumsMedizin 39:s1.
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Berndt Zur. (2015) Hämoglobinvarianten – Pathomechanismus, Symptome und Diagnostik. LaboratoriumsMedizin 39:5, pages 311-324.
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John Old. 2014. Reference Module in Biomedical Sciences. Reference Module in Biomedical Sciences.
Stacy E. Croteau, Hong-Yuan Luo, Leslie E. Lehmann, David H.K. Chui & Ellis J. Neufeld. (2013) Novel dominant β-thalassemia: Hb Boston-Kuwait [Codon 139/140(+T)]. Pediatric Blood & Cancer 60:10, pages E131-E134.
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Nae Yu, Hye Ryoun Kim, Young Joo Cha & Eun Kyung Park. (2010) A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia. Annals of Hematology 90:2, pages 243-244.
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B. Kanathezhath, F.K. Hazard, H. Guo, J. Kidd, M. Azimi, F.A. Kuypers, E.P. Vichinsky & A. Lal. (2010) Hemoglobin Hakkari: An autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene. Pediatric Blood & Cancer 54:2, pages 332-335.
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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 .
Eun Sil ParkHye Young HanJae Young LimSung Sup ParkSun Young Kim. (2009) A Case of β Thalassemia Intermedia Due to Hemoglobin Cagliari (β 60 Val→Glu). The Korean Journal of Hematology 44:3, pages 153.
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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.
Crossref
Faramarz Naeim. 2008. Hematopathology. Hematopathology 529 565 .

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