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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 4
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Original Article

Hb Amsterdam [α32(B13)Met→Ile (α2)]: A New Unstable Variant Associated with an α-Thalassemia Phenotype and a New African Polymorphism

Cornelis L. Harteveld The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands
,
Mark Vervloet Department of Nephrology, Free University Medical Center, Amsterdam, The Netherlands
,
Sonja Zweegman Department of Hematology, Free University Medical Center, Amsterdam, The Netherlands
,
Peter van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands
,
Nicole Akkermans The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands
,
Sandra Arkestijn The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands
&
Piero C. Giordano The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The NetherlandsCorrespondence[email protected]
, Ph.D. show all
Pages 257-262 | Received 18 Apr 2005, Accepted 27 May 2005, Published online: 07 Jul 2009

Citations (11)

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Read on this site (7)

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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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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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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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, Florens G.A. Versteegh, Eduard H.G. van Leer, Jaap S. Starreveld, Peter J.M.J. Kok, Irene van Rooijen-Nijdam, Peter van Delft, Isabelle Zanella-Cleon, Michel Becchi, Henri Wajcman & Piero C. Giordano. (2007) Hb St. Jozef, A Val→Leu N-Terminal Mutation Leading to Retention of the Methionine, and Partial Acetylation Found in the Globin Gene in Cis with a −α3.7 Thalassemia Deletion. Hemoglobin 31:3, pages 313-323.
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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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Articles from other publishers (4)

Wanrong Pang, Xunjin Weng, Xuehe Ye, Ju Long, Suping Wu, Lei Sun, Chunyan Wei, Mingli Chen, Weijun Tang, Shengying Qiu & Chenghong Zhang. (2016) Identification of a variation in the IVSII of α2 gene and its frequency in the population of Guangxi. Gene 583:1, pages 24-28.
Crossref
Félix de la Fuente-Gonzalo, Jorge M. Nieto, Diego Velasco, Elena Cela, Germán Pérez, Ana Fernández-Teijeiro, Antonio Escudero, Ana Villegas, Fernando A. González-Fernández & Paloma Ropero. (2016) HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies. Clinical Chemistry and Laboratory Medicine (CCLM) 54:4.
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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