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

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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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Hb MONT SAINT AIGNAN [β128(H6)Ala → Pro]: A NEW UNSTABLE VARIANT LEADING TO CHRONIC MICROCYTIC ANEMIA

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Hb MONT SAINT AIGNAN [β128(H6)Ala → Pro]: A NEW UNSTABLE VARIANT LEADING TO CHRONIC MICROCYTIC ANEMIA

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