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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 1
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Short Communication

Two New Hemoglobin Variants: Hb Brem-Sur-Mer [β9(A6)Ser→Tyr] and Hb Passy [α81(F2)Ser→Pro (α2)]

Philippe Lacan Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, 5 Place d'Arsonval, Lyon Cedex 03, 69437, France
,
Mathieu Moreau Sciences Biomédicales, Faculté de Médecine, Université de Montréal, Montréal, H3T 1J4, Québec, Canada
,
Michel Becchi Institut de Biologie et Chimie des Protéines (CNRS-UMR 5086), Lyon Cedex 07, 69367, France
,
Isabelle Zanella-Cleon Institut de Biologie et Chimie des Protéines (CNRS-UMR 5086), Lyon Cedex 07, 69367, France
,
Martine Aubry Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, 5 Place d'Arsonval, Lyon Cedex 03, 69437, France
,
Jean-Jacques Louis Service de pédiatrie, Centre Hospitalier, Sallanches, 74700, France
,
Nicole Couprie Laboratoire Marcel Mérieux, Cedex 07, 69367, France
&
Dr. Alain Francina Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, 5 Place d'Arsonval, Lyon Cedex 03, 69437, France; Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, 5 Place d'Arsonval, Lyon Cedex 03, 69437, France
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Pages 69-75 | Received 10 Aug 2004, Accepted 18 Oct 2004, Published online: 07 Jul 2009
 
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Abstract

Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TC T→TA T); β9(A6)Ser→Tyr] on the first exon of the β-globin gene and Hb Passy [codon 81 (T CC→C CC); α81(F2)Ser→Pro (α2)] on the second exon of the α2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an α-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible α-thalassemia (thal).

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