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Hemoglobin
international journal for hemoglobin research
Volume 30, 2006 - Issue 3
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ORIGINAL ARTICLE

Hb Bleuland [α108(G15)Thr→Asn, ACC→AAC (α2)]: A New Abnormal Hemoglobin Associated with a Mild α-Thalassemia Phenotype

Cornelis L. Harteveld 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
,
Peter J.M.J. Kok Department of Clinical Chemistry, Groene Hart Hospital, Gouda, The Netherlands
,
Irene H. van Rooijen-Nijdam Department of Clinical Chemistry, Groene Hart Hospital, Gouda, The Netherlands
,
Peter van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
&
Piero C. Giordano The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]
Pages 349-354 | Received 13 Dec 2005, Accepted 03 Feb 2006, Published online: 07 Jul 2009

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Agathe Horri-Naceur & David J. Timson. (2020) In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia. Hemoglobin 44:2, pages 89-103.
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Kirsten M. Pondman, Jacoline W. Brinkman, Hanneke M. van der Straaten, An K. Stroobants & Cornelis L. Harteveld. (2018) Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families. Hemoglobin 42:1, pages 51-53.
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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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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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Talal Qadah, Jill Finlayson, Maxine Dennis, Christopher Newbound & Reza Ghassemifar. (2015) Experimental Characterization of Hb Flurlingen (HBA2: c.177 C > G, p.His > Gln) and Hb Boghé (HBA2: c.177 C > A, p.His > Gln) Reveals Contradictory HBA2 Expression and Translation Patterns Despite Identical Amino Acid Substitutions. Hemoglobin 39:5, pages 340-345.
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Talal Qadah, Jill Finlayson, Emma North & Reza Ghassemifar. (2015) Molecular Characterization of Hb Hamilton Hill (HBA2: c.388delC), a Novel HBA2 Variant Generating a Premature Termination Codon and Truncated HBA2 Chain. Hemoglobin 39:2, pages 88-94.
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Talal Qadah, Jill Finlayson, Christopher Newbound, Nicole Pell, Michelle Pascoe, Laura Greenwood, Paula Holmes, Dianne Grey, John Beilby & Reza Ghassemifar. (2012) Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon. Hemoglobin 36:3, pages 244-252.
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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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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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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, Margaretha Bakker-Verwij & Cornelis L. Harteveld. (2009) Frequency of α-Globin Gene Triplications and Their Interaction with β-Thalassemia Mutations. Hemoglobin 33:2, pages 124-131.
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Ahmad Tamaddoni, Valeh Hadavi, Nima Hafezi Nejad, Atefeh Khosh-Ain, Rita Siami, Jalil Aghai-Meibodi, Navid Almadani, Christian Oberkanins, Hai-Yang Law & Hossein Najmabadi. (2009) α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran. Hemoglobin 33:2, pages 115-123.
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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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Articles from other publishers (7)

Maria Grazia Bisconte, Mercedes Caldora, Gennaro Musollino, Giovanna Cardiero, Angela Flagiello, Gaetana La Porta, Laura Lagona, Romeo Prezioso, Gabriele Qualtieri, Carlo Gaudiano, Emilia Medulla, Antonello Merlino, Piero Pucci & Giuseppina Lacerra. (2015) α-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.. PLOS ONE 10:3, pages e0115738.
Crossref
Talal Qadah, Jill Finlayson, Maxine Dennis & Reza Ghassemifar. (2014) Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2:c.-59C>T], [HBA2:c.-81C>A] and [HBA2:c.-91G>A] reveal varying patterns of transcriptional and translational activities. Pathology 46:1, pages 46-52.
Crossref
Annie Chow, Reza Ghassemifar & Jill Finlayson. (2013) Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance. Pathology 45:6, pages 591-594.
Crossref
Talal Qadah, Jill Finlayson, Christopher Newbound, Nicole Pell, Michelle Jennens, Paula Holmes, Dianne Grey, John Beilby & Reza Ghassemifar. (2012) A molecular tool to assess the pathological relevance of alpha-globin DNA variants. Pathology 44:4, pages 337-341.
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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.
Crossref
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 .

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