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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 1
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Hb MONT SAINT AIGNAN [β128(H6)Ala → Pro]: A NEW UNSTABLE VARIANT LEADING TO CHRONIC MICROCYTIC ANEMIA

Henri Wajcman INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, AP-HP 94010, France; INSERM U468, Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Marechal de Lattre de Tassigny, Créteil, AP-HP 94010, France
,
Agnés Lahary
,
Danielle Promé Institut de Chimie Moléculaire Paul Sabatier, FR 1744, Toulouse, Cedex 4, 31062, France
,
Jean Kister
,
Jean Riou INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, AP-HP 94010, France
,
Christian Godart INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, AP-HP 94010, France
,
Claude Préhu INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, AP-HP 94010, France
,
Jan Traeger-Synodinos First Department of Pediatrics, Athens University, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece
,
Ioannis Papassotiriou Laboratory of Clinical Chemistry, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece
&
Frederic Galactéros INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, AP-HP 94010, France
 show all
Pages 57-65 | Received 16 Jun 2000, Accepted 10 Aug 2000, Published online: 07 Jul 2009
 
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Abstract

Hb Mont Saint-Aignan [β128(H6)Ala → Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased α/β biosynthetic ratio (1.55 versus1.1±0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modification determined by protein chemistry methods (reversed phase high performance liquid chromatography and mass spectrometry). Possible mechanisms underlying the β+-thalassemia-like expression of this variant are discussed.

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