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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 4
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Review Article

Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

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Pages 327-349 | Received 08 Jan 2008, Accepted 03 Feb 2008, Published online: 07 Jul 2009

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Read on this site (51)

Bin Tang, Jicheng Wang, Danqinq Qin, Cuize Yao, Keyi Chen, Lihua Liang, Huiying Chai, Hao Guo & Li Du. (2023) Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family. Hematology 28:1.
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Cuize Yao, Danqing Qin, Jicheng Wang, Xiuqin Bao, Jie Liang & Li Du. (2022) First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families. Hematology 27:1, pages 867-873.
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Runa M. Grimholt, Bente Fjeld & Olav Klingenberg. (2021) Hemoglobinopathy gone astray—three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing. Scandinavian Journal of Clinical and Laboratory Investigation 81:8, pages 670-678.
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Apisara Saensuwanna, Tipparat Penglong & Kanitta Srinoun. (2021) Upregulation of miR-214 Mediates Oxidative Stress in Hb H Disease via Targeting of ATF4. Hemoglobin 45:3, pages 197-202.
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Fatemeh Forouzesh Pour, Keyvan Karimi, Zhila Ghaderi, Ameneh Tavakoli Koudehi & Hossein Najmabadi. (2020) Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran. Hemoglobin 44:6, pages 423-426.
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Nikita Mehta, J. Martin Johnston, Molly Hein, Benjamin R. Kipp, Lea Coon, Michelle E. Savedra, James D. Hoyer, Rong He, Aruna Rangan, Min Shi & Jennifer L. Oliveira. (2020) Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State. Hemoglobin 44:3, pages 174-178.
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Cristina Curcio, Valentina Giannone, Elena Benzoni, Claudia Cesaretti & Giovanni Ivaldi. (2019) Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family. Hemoglobin 43:1, pages 4-6.
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Stamatia Theodoridou, Aikaterini Teli, Eleni Yfanti, Timoleon-Achilleas Vyzantiadis, Theodoros Theodoridis & Marina Economou. (2018) Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the –α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling. Hemoglobin 42:2, pages 129-131.
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Ganghui Chu, Wensheng Cai & Xueguang Shao. (2017) Determination of Bovine Hemoglobin by Near-Infrared Diffuse Reflectance Spectroscopy with Novel Adsorption Preconcentration. Analytical Letters 50:7, pages 1196-1208.
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Stephen O. Brennan, Darrell Wang, Mark Horridge & Campbell R. Sheen. (2017) Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene. Hemoglobin 41:2, pages 140-143.
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Saskia Brunner-Agten, Thomas von Känel, Benno Röthlisberger, Charles Broquet & Andreas R. Huber. (2017) Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity. Hemoglobin 41:1, pages 1-5.
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Li Lin, Biyan Chen, Shang Yi, Qiuli Chen, Hongwei Wei, Guojian Li, Chenguang Zheng, Xiao-Xia Qiu & Sheng He. (2017) A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]. Hemoglobin 41:1, pages 65-67.
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Samaneh Farashi, Negin F. Garous, Shadi Vakili, Mehri Ashki, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2016) Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population. Hemoglobin 40:1, pages 53-55.
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Samaneh Farashi, Shadi Vakili, Negin F. Garous, Mehri Ashki, Fatemeh Forouzesh Pour, Fatemeh Zeinali, Fariba Rad, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2016) Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene. Hemoglobin 40:1, pages 38-43.
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Samaneh Farashi, Nooshin Bayat, Shadi Vakili, Negin Faramarzi Garous, Mehri Ashki, Hashem Imanian, Hossein Najmabadi & Azita Azarkeivan. (2016) Point mutations which should not be overlooked in Hb H disease. Expert Review of Hematology 9:1, pages 107-113.
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Samaneh Farashi, Shadi Vakili, Negin F. Garous, Mehri Ashki, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2015) Mutations on the α2-Globin Gene That May Trigger α+-Thalassemia. Hemoglobin 39:6, pages 398-402.
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Samaneh Farashi, Negin F. Garous, Mehri Ashki, Shadi Vakili, Fatemeh Zeinali, Hashem Imanian, Azita Azarkeivan, Piero C. Giordano & Hossein Najmabadi. (2015) Homozygosity for the AATAAA > AATA– – Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report. Hemoglobin 39:5, pages 355-358.
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Samaneh Farashi, Negin Faramarzi Garous, Mehri Ashki, Shadi Vakili, Fatemah Zeinali, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2015) Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient. Hemoglobin 39:3, pages 152-155.
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Antonis Kattamis, Polyxeni Delaporta, Irene Fylaktou, Christina Vrettou, Dimitra Kyriakopoulou, Alexandra Stamoulakatou, Ioannis Papassotiriou, Emmanuel Kanavakis & Jan Traeger-Synodinos. (2015) Hb Souli, a 6 bp In-Frame Deletion on the HBA2 Gene (HBA2: c.[41-46delCCTGGG]) Leads to α-Thalassemia Intermedia, When in Trans to a Single α-Globin Gene Deletion. Hemoglobin 39:1, pages 55-57.
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Ho-Wan Ip & Chi-Chiu So. (2013) Diagnosis and prevention of thalassemia. Critical Reviews in Clinical Laboratory Sciences 50:6, pages 125-141.
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Giuseppina Barberio, Daniela Leone, Giovanni Ivaldi & Piero C. Giordano. (2013) Hb Treviso [α91(FG3)Leu→Phe (α2)]: A New Slightly Unstable Hemoglobin Variant with Moderately Decreased Oxygen Affinity. Hemoglobin 37:2, pages 107-111.
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Kritsada Singha, Hataichanok Srivorakun, Goonnapa Fucharoen, Yossombat Changtrakul, Patcharee Komwilaisak, Arunee Jetsrisuparb, Rawiwan Puangplruk & Supan Fucharoen. (2013) Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α0-Thalassemia: Molecular and Hematological Features and Differential Diagnosis. Hemoglobin 37:1, pages 37-47.
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Celeste Bento, Ana Catarina Oliveira, Joana Neves, Mariline Gameiro, Elizabete Cunha, Margarida Coucelo, Ricardo Marques Costa, José Barbot, Emilia Costa, Carlos Fernández-Lago & M. Leticia Ribeiro. (2012) Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a New α-Thalassemic Hemoglobin Variant Found in the Iberian Peninsula: Report of Six Cases. Hemoglobin 36:6, pages 517-525.
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Aspasia Destouni, George Christopoulos, Christina Vrettou, Georgia Kakourou, Marina Kleanthous, Jan Traeger-Synodinos & Emmanuel Kanavakis. (2012) Microsatellite Markers Within the α-Globin Gene Cluster for Robust Preimplantation Genetic Diagnosis of Severe α-Thalassemia Syndromes in Mediterranean Populations. Hemoglobin 36:3, pages 253-264.
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Maria Elisabetta Paglietti, Maria Carla Sollaino, Daniela Loi, Susanna Barella, Maria Franca Desogus & Renzo Galanello. (2012) First Detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in An Italian Child. Hemoglobin 36:3, pages 299-304.
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Suravee Sroymora, Sumalee Jindadamrongwech, Punnee Butthep & Suporn Chuncharunee. (2012) Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) Disease. Hemoglobin 36:3, pages 293-298.
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Suravee Sroymora, Sumalee Jindadamrongwech, Punnee Butthep & Suporn Chuncharunee. (2012) A Rare Hb H Disease Due to the – –SEA and 16.6 kb α-Thalassemia-2 Deletions. Hemoglobin 36:2, pages 200-204.
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Jill Finlayson, Reza Ghassemifar, Paula Holmes, Dianne Grey, Christopher Newbound, Nicole Pell, Michelle Jennens, Claire Macaulay, Laura Greenwood & John Beilby. (2011) Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype. Hemoglobin 35:2, pages 142-146.
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Can Liao, Jian-Ying Zhou, Xing-Mei Xie, Ying-Na Liu, Li-He Chen & Dong-Zhi Li. (2011) Identification of a New α Chain Variant at Codons 22–25 (–9 nts) Using the Sebia Capillarys 2 Electrophoresis System. Hemoglobin 35:2, pages 166-170.
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Philippe Joly, Caroline Garcia, Philippe Lacan, Nicole Couprie & Alain Francina. (2011) Two New Hemoglobin Variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T]. Hemoglobin 35:2, pages 147-151.
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Loïc Garçon, Achille Iolascon, Serge Pissard, Maria R. Esposito, Roberta Russo, Odile Fenneteau, Madeleine Fénéant-Thibault, Hermann Heimpel & Jean Delaunay. (2010) A Dyserythropoietic Anemia Associated with Homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), A Variant with an Unstable α Chain. Hemoglobin 34:6, pages 576-581.
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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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Ita M. Nainggolan, Alida Harahap & Iswari Setianingsih. (2010) Hydrops Fetalis Associated with Homozygosity for Hb Adana [α59(E8)Gly→Asp (α2)]. Hemoglobin 34:4, pages 394-401.
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Philippe Joly, Anton Szymanowicz, Marie-Jeanne Neyron, Abdellah Zine, Henri Wajcman & Alain Francina. (2010) Hb Charlieu [α106(G13)Leu→Pro (α1)]: A New Phenotypically Silent Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype. Hemoglobin 34:4, pages 366-373.
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Piero C. Giordano, Marjon H. Cnossen, Annemarie M.S. Joosten, Cees A.M. Jansen, Tineke E. Hakvoort, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Peter van Delft, John S. Waye, Marelle J. Bouva & Cornelis L. Harteveld. (2010) Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening. Hemoglobin 34:4, pages 354-365.
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Martin Hergersberg, Saskia Brunner-Agten, Thomas Kühne, Michael Paulussen & Andreas R. Huber. (2010) A New Stable α Chain Variant: Hb Basel [α14(A12)Trp→Leu (α1)]. Hemoglobin 34:3, pages 327-331.
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John Old & Shirley Henderson. (2010) Molecular diagnostics for haemoglobinopathies. Expert Opinion on Medical Diagnostics 4:3, pages 225-240.
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Prashant Warang, Sona Nair, Anita Nadkarni, Kanjaksha Ghosh & Roshan B. Colah. (2010) Hb H Disease Due to Homozygosity for a Rare α2-Globin Variant, Hb Sallanches. Hemoglobin 34:1, pages 45-48.
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John S. Waye, Barry Eng, Fabrizio Dutly & Hannes Frischknecht. (2009) α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T). Hemoglobin 33:6, pages 519-522.
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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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Rob van Zwieten, Judith O. Kaufmann, Herma Vuil, Jan Kouwenberg, Arthur J. Verhoeven, Kea Fogelberg, Cornelis L. Harteveld & Piero C. Giordano. (2009) Hb Nile[A1] and Hb Nile[A2]: Novel Identical [α77(EF6)Pro→Ser] Variants Found in Either the α1- or α2-Globin Genes. Hemoglobin 33:3-4, pages 188-195.
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Varvara Douna, Ioannis Papassotiriou, Alexandra Stamoulakatou, Anna Metaxotou-Mavrommati, Emmanuel Kanavakis & Joanne Traeger-Synodinos. (2008) Association of Mild and Severely Unstable α Chain Variants: The First Observation of a Compound Heterozygote with Hb Setif [α94(G1)Asp→Tyr (α2)] and Hb Agrinio [α29(B10)Leu→Pro (α2)] in a Greek Family. Hemoglobin 32:6, pages 592-595.
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Crossref
Patricia Aguilar‐Martinez & Béatrice Gulbis. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
Cornelis L. Harteveld, Wytze P. Oosterhuis, Christian H. H. Schoenmakers, Hardjawardhama Ananta, Snjezana Kos, Margaretha Bakker Verweij, Peter Van Delft, Sandra G. J. Arkesteijn, Marion Phylipsen & Piero C. Giordano. (2010) α‐thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2‐globin gene. European Journal of Haematology 84:4, pages 354-358.
Crossref
P. Joly, A. Szymanowicz, M.-J. Neyron, A. Zine & A. Francina. (2010) L’Hb Charlieu [α1 Cd106 (G13) Leu>Pro] : un nouveau variant alpha-thalassémique de l’hémoglobine découvert au décours d’une microcytose inexpliquée. Immuno-analyse & Biologie Spécialisée 25:2, pages 104-109.
Crossref
Anita H. Nadkarni, Sona B. Nair, Khushnooma Y. Italia, Prashant Warang, Madhura Dalvi, Kanjaksha Ghosh & Roshan B. Colah. (2010) Molecular Diversity of Hemoglobin H Disease in India. American Journal of Clinical Pathology 133:3, pages 491-494.
Crossref
Economou Marina, Papadopoulou Eleni, Tsatra Ioanna & Athanassiou-Metaxa Miranda. (2010) A Case of Mild Thalassemic Syndrome Caused by Interaction of Hb Adana With an α+-thalassemia Deletion. Journal of Pediatric Hematology/Oncology 32:2, pages 167-168.
Crossref
Yue Teng, Rutao Liu, Shifeng Yan, Xingren Pan, Pengjun Zhang & Meijie Wang. (2009) Spectroscopic Investigation on the Toxicological Interactions of 4-aminoantipyrine with Bovine Hemoglobin. Journal of Fluorescence 20:1, pages 381-387.
Crossref
John M. Old. 2009. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 646 679 .
Nicola Conran & Fernando F. Costa. (2009) Hemoglobin disorders and endothelial cell interactions. Clinical Biochemistry 42:18, pages 1824-1838.
Crossref
Shirley Henderson, Adele Timbs, Janice McCarthy, Alice Gallienne, Margaretha Van Mourik, Gillian Masters, Alison May, Mohamed S.M. Khalil, Anna Schuh & John Old. (2009) Incidence of haemoglobinopathies in various populations — The impact of immigration. Clinical Biochemistry 42:18, pages 1745-1756.
Crossref
Isabelle Zanella-Cleon, Philippe Joly, Michel Becchi & Alain Francina. (2009) Phenotype determination of hemoglobinopathies by mass spectrometry. Clinical Biochemistry 42:18, pages 1807-1817.
Crossref
Elza M. Kimura, Denise M. Oliveira, Kleber Fertrin, Valéria R. Pinheiro, Susan E.D.C. Jorge, Fernando F. Costa & Maria de Fátima Sonati. (2009) Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil. Genetics and Molecular Biology 32:4, pages 712-715.
Crossref
Nathalie Bonello-Palot, Katia Gonnet, Christophe Ducros, Françoise Merono, Chantal Paolasso, Nicolas Levy, Bernard Vialettes & Catherine Badens. (2009) Late diagnosis of an unstable hemoglobin in a diabetic patient: Hb Baille alpha2 122(H5)His>Tyr. Clinica Chimica Acta 406:1-2, pages 174-175.
Crossref
Giuseppina Lacerra & Clementina Carestia. (2009) Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie α2 130 Ala > Pro and Hb Caserta α2 26 Ala > Thr) in a single HBA2 gene . British Journal of Haematology 145:6, pages 843-844.
Crossref

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