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Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 3-4
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Original Article

Strategy for Identification by Mass Spectrometry of a New Human Hemoglobin Variant with Two Mutations in Cis in the β-Globin Chain: Hb S-Clichy [β6(A3)Glu→Val; β8(A5)Lys→Thr]

Isabelle Zanella-Cleon Institut de Biologie et de Biochimie des Protéines, IFR128, Université Claude Bernard-Lyon I, Lyon, France
,
Claude Préhu Biochimie Génétique, Hôpital Henri Mondor, Créteil, France
,
Philippe Joly Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils, Lyon, France
,
Jean Riou Biochimie Génétique, Hôpital Henri Mondor, Créteil, France
,
Michel Becchi Institut de Biologie et de Biochimie des Protéines, IFR128, Université Claude Bernard-Lyon I, Lyon, France
,
Henri Wajcman INSERM U 955, Hôpital Henri Mondor, Créteil, France
&
Alain Francina Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils, Lyon, FranceCorrespondence[email protected]
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Pages 177-187 | Received 12 Feb 2009, Accepted 23 Feb 2009, Published online: 15 Sep 2009

Citations (10)

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Céline Renoux, Cécile Feray, Philippe Joly, Isabelle Zanella-Cleon, Caroline Garcia, Philippe Lacan, Nicole Couprie & Alain Francina. (2015) A New Hemoglobin Variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a Double Base Mutation at the Same Codon. Hemoglobin 39:1, pages 46-48.
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Articles from other publishers (9)

Barbara J. Bain. 2020. Haemoglobinopathy Diagnosis. Haemoglobinopathy Diagnosis 185 260 .
Daniela Šimčíková & Petr Heneberg. (2019) Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases. Scientific Reports 9:1.
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Lu Chen, Nan Wang & Liang Li. (2014) Development of microwave-assisted acid hydrolysis of proteins using a commercial microwave reactor and its combination with LC–MS for protein full-sequence analysis. Talanta 129, pages 290-295.
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Christopher A. Haynes, Stephanie L. Guerra, Jessalyn C. Fontana & Víctor R. DeJesús. (2013) HPLC–ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations. Clinica Chimica Acta 424, pages 191-200.
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Rebecca L Edwards, Nicholas J Martin & Helen J Cooper. (2013) Hemoglobin variant analysis of whole blood and dried blood spots by MS. Bioanalysis 5:16, pages 2043-2052.
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Kamran Moradkhani, Jean Riou & Henri Wajcman. (2013) Pitfalls in the genetic diagnosis of Hb S. Clinical Biochemistry 46:4-5, pages 291-299.
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K. Bouzid, M.-H. Odièvre, G. Ithier, M. Benkerrou, N. Couque, J. Elion & R. Ducrocq. (2011) Syndromes drépanocytaires atypiques : à propos de deux cas. Immuno-analyse & Biologie Spécialisée 26:5-6, pages 267-275.
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Barbara J. Bain. (2011) Haemoglobinopathy diagnosis: Algorithms, lessons and pitfalls. Blood Reviews 25:5, pages 205-213.
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Isabelle Zanella-Cleon, Philippe Joly, Michel Becchi & Alain Francina. (2009) Phenotype determination of hemoglobinopathies by mass spectrometry. Clinical Biochemistry 42:18, pages 1807-1817.
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