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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 2
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Short Communication

The First Case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

Piero C. Giordano The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]
,
Sonja Zweegman Department of Hematology, Free University Medical Center, Amsterdam, The Netherlands
,
Nicole Akkermans The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Sandra G.J. Arkesteijn The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Peter van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Florens G.A. Versteegh Department of Paediatrics, Groene Hart Hospital, Gouda, The Netherlands
,
Henri Wajcman INSERM U654, Hôpital Henri Mondor, Créteil, France
&
Cornelis L. Harteveld The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
 show all
Pages 179-182 | Received 11 Oct 2006, Accepted 08 Nov 2006, Published online: 07 Jul 2009

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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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Philippe Joly, Philippe Lacan, Caroline Garcia & Alain Francina. (2014) Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] Variant. Hemoglobin 38:1, pages 64-66.
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Philippe Joly, Philippe Lacan, Caroline Garcia & Alain Francina. (2013) Two Complex Associations of an HBD Mutation and a Rare α Hemoglobinopathy. Hemoglobin 37:5, pages 486-491.
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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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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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Amel Haj Khelil, Sabri Denden, Nadia Leban, Houria Daimi, Ramzi Lakhdhar, Gérard Lefranc, Jemni Ben Chibani & Pascale Perrin. (2010) Hemoglobinopathies in North Africa: A Review. Hemoglobin 34:1, pages 1-23.
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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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Kamran Moradkhani, Elodie Mazurier, Piero C. Giordano, Henri Wajcman & Claude Préhu. (2008) An α0-Thalassemia-Like Mutation: Hb Suan-Dok [α109(G16)Leu→Arg] Carried by a Recombinant −α3.7 Gene. Hemoglobin 32:4, pages 419-424.
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Nur Suraya Che Yaacob, Md Asiful Islam, Heba Alsaleh, Ibrahim Khidir Ibrahim & Rosline Hassan. (2020) Alpha-hemoglobin-stabilizing protein (AHSP): a modulatory factor in β-thalassemia. International Journal of Hematology 111:3, pages 352-359.
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Félix de la Fuente-Gonzalo, Paloma Ropero, Jorge Martínez-Nieto, Ana Villegas, Fernando A. González & Joaquín Díaz-Mediavilla. (2015) Asociación de la hemoglobina Groene Hart con la hemoglobina J-París-I: primer caso en España. Medicina Clínica 144:5, pages 212-215.
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Félix de la Fuente-Gonzalo, Paloma Ropero, Jorge Martínez-Nieto, Ana Villegas, Fernando A. González & Joaquín Díaz-Mediavilla. (2015) Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: First case in Spain. Medicina Clínica (English Edition) 144:5, pages 212-215.
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Claire F. Dickson, Anne M. Rich, William M.H. D'Avigdor, Daniel A.T. Collins, Jason A. Lowry, Todd L. Mollan, Eugene Khandros, John S. Olson, Mitchell J. Weiss, Joel P. Mackay, Peter A. Lay & David A. Gell. (2013) α-Hemoglobin-stabilizing Protein (AHSP) Perturbs the Proximal Heme Pocket of Oxy-α-hemoglobin and Weakens the Iron-Oxygen Bond. Journal of Biological Chemistry 288:27, pages 19986-20001.
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Maria Emília Favero & Fernando Ferreira Costa. (2011) Alpha-Hemoglobin-Stabilizing Protein: An Erythroid Molecular Chaperone. Biochemistry Research International 2011, pages 1-7.
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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 .
Xiang YuTodd L. MollanAndrew Butler, Andrew J. Gow, John S. OlsonMitchell J. Weiss. (2009) Analysis of human α globin gene mutations that impair binding to the α hemoglobin stabilizing protein. Blood 113:23, pages 5961-5969.
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Mitchell J. Weiss & Camila O. dos Santos. (2009) Chaperoning erythropoiesis. Blood 113:10, pages 2136-2144.
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Isabelle Zanella-Cleon, Michel Becchi, Philippe Lacan, Piero C Giordano, Henri Wajcman & Alain Francina. (2008) Detection of a Thalassemic α-Chain Variant (Hemoglobin Groene Hart) by Reversed-Phase Liquid Chromatography. Clinical Chemistry 54:6, pages 1053-1059.
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