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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 4
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Short Communication

Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques

Philippe Joly Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France
,
Brigitte Pégourié Service d'Oncohématologie, Hôpital Albert Michallon, Grenoble, France
,
Stéphane Courby Service d'Oncohématologie, Hôpital Albert Michallon, Grenoble, France
,
Claire Barro Laboratoire d'Hématologie Biologique, Hôpital Albert Michallon, Grenoble, France
,
Gérard Besson Service de Neurologie, Hôpital de la Tronche, Grenoble, France
,
Laura Cohen Service de Neurologie, Hôpital de la Tronche, Grenoble, France
,
Caroline Garcia Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France
&
Alain Francina Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, FranceCorrespondence[email protected]
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Pages 411-417 | Received 03 Dec 2007, Accepted 15 Jan 2008, Published online: 07 Jul 2009

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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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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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Articles from other publishers (2)

Paloma Ropero, Jorge M. Nieto, Fernando-Ataúlfo González Fernández, Ana Villegas & Celina Benavente. (2021) Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene. Clinical Biochemistry 92, pages 77-81.
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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.
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