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Hemoglobin
international journal for hemoglobin research
Volume 26, 2002 - Issue 3
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Hb GROENE HART: A NEW Pro→Ser AMINO ACID SUBSTITUTION AT POSITION 119 OF THE α1-GLOBIN CHAIN IS ASSOCIATED WITH A MILD α-THALASSEMIA PHENOTYPE

Cornelis L. Harteveld Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg, Leiden, 72, 2333 AL, The Netherlands
,
Peter van Delft Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg, Leiden, 72, 2333 AL, The Netherlands
,
Rob Plug Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg, Leiden, 72, 2333 AL, The Netherlands
,
Florens G.A. Versteegh Department of Pediatrics and, Groene Hart Hospital, Gouda, 2803 HH, The Netherlands
,
Balt Hagen Department of Clinical Chemistry, Groene Hart Hospital, Gouda, 2803 HH, The Netherlands
,
Irene van Rooijen Department of Clinical Chemistry, Groene Hart Hospital, Gouda, 2803 HH, The Netherlands
,
Peter J.M.J. Kok Department of Clinical Chemistry, Groene Hart Hospital, Gouda, 2803 HH, The Netherlands
,
Henri Wajcman INSERM U468, Hoˆpital Henri Mondor, Créteil, 94010, France
,
Jean Kister
&
Piero C. Giordano Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg, Leiden, 72, 2333 AL, The Netherlands
 show all
Pages 255-260 | Received 18 Dec 2001, Accepted 12 Mar 2002, 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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Cornelis L. Harteveld, Serge Pissard, Anna M. H. Korver, Jean Riou, Eric Legac, Gideon Lansbergen, Inge L. Pardijs, Piero C. Giordano & Florens G. A. Versteegh. (2016) Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin. Hemoglobin 40:5, pages 349-352.
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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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Florens G.A. Versteegh, Sandra G.J. Arkesteijn, Margreet Bakker-Verweij, Karola Haanappel, Peter van Delft, Marion Phylipsen, Judith O. Kaufmann, Peter J.M.J. Kok, Gideon W.A. Lansbergen, Piero C. Giordano & Cornelis L. Harteveld. (2011) Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family. Hemoglobin 35:2, pages 97-102.
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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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Cornelis L. Harteveld, Willem C.H. van Helden, George L. Boxma, Peter van Delft, Margaretha Bakker-Verweij, Henri Wajcman, Isabelle Zanella-Cleon, Michel Becchi & Piero C. Giordano. (2007) Hb Zoetermeer: A New Mutation on the α2 Gene Inducing an Ala→Ser Substitution at Codon 21 is Possibly Associated with a Mild Thalassemic Phenotype. Hemoglobin 31:3, pages 325-332.
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Piero C. Giordano, Sonja Zweegman, Nicole Akkermans, Sandra G.J. Arkesteijn, Peter van Delft, Florens G.A. Versteegh, Henri Wajcman & Cornelis L. Harteveld. (2007) 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. Hemoglobin 31:2, pages 179-182.
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Hajer Siala, Faida Ouali, Taieb Messaoud, Rachida Sfar & Slaheddine Fattoum. (2005) First Description in Tunisia of a Point Mutation at Codon 119 (CCT→TCT) in the α1-Globin Gene: Hb Groene Hart in Association with the − α3.7 Deletion. Hemoglobin 29:4, pages 263-268.
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Claude Préhu, Elodie Mazurier, Jean Riou, Jean Kister, Danielle Promé, Suzy Richelme‐David, Lina Al Jassem, Elisabeth Angellier & Henri Wajcman. (2003) A new Unstable α2‐Globin Gene Variant: Hb Chartres [α33(B14)Phe→Ser]. Hemoglobin 27:2, pages 111-115.
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Giovanni Antonello, Carlo Lo Monaco, Patrizia Napoli, Daniela Solimando, Cristina Curcio, Giuseppina Barberio, Sauro Maoggi, Giovanni Ivaldi & Marco Nigra. (2022) Two co-inherited hemoglobin variants revealed by capillary electrophoresis during quantification of glycated hemoglobin. Clinical Chemistry and Laboratory Medicine (CCLM) 60:6, pages 886-890.
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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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J. Riou, S. Pissard, M. Goossens & H. Wajcman. (2015) Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains. International Journal of Laboratory Hematology 37:2, pages 279-286.
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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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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.
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Antonino Giambona, Cristina Passarello, Disma Renda & Aurelio Maggio. (2009) The significance of the hemoglobin A2 value in screening for hemoglobinopathies. Clinical Biochemistry 42:18, pages 1786-1796.
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Corinne Vasseur, Elisa Domingues-Hamdi, Thomas Brillet, Michael C. Marden & Véronique Baudin-Creuza. (2009) The α-hemoglobin stabilizing protein and expression of unstable α-Hb variants. Clinical Biochemistry 42:18, pages 1818-1823.
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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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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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Corinne Vasseur-Godbillon, Michael C. Marden, Piero Giordano, Henri Wajcman & Véronique Baudin-Creuza. (2006) Impaired binding of AHSP to α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with α thalassemic like syndrome. Blood Cells, Molecules, and Diseases 37:3, pages 173-179.
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