Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

Ioannis Papassotiriou Department of Clinical Biochemistry, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece

Joanne Traeger-Synodinos First Department of Pediatrics, Athens University, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece

Danielle Promé Département de Chimie, Université Paul Sabatier, Toulouse, Cedex, 31062, France

Jean Kister Hôpital de Bicêtre, INSERM U473, 94276, Le Kremlin-Bicêtre, Cedex, France

Christina Vrettou First Department of Pediatrics, Athens University, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece

Athina Xaidara First Department of Pediatrics, Athens University, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece

Michael Marden Hôpital de Bicêtre, INSERM U473, 94276, Le Kremlin-Bicêtre, Cedex, France

Alexandra Stamoulakatou Department of Clinical Biochemistry, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece

Henri Wajcman Hôpital Henri Mondor, INSERM U468, Créteil, 94 010, France

Emmanuel Kanavakis First Department of Pediatrics, Athens University, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece; First Department of Pediatrics, Athens University, “Aghia Sophia” Children’s Hospital, Athens, 11 527, Greece

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Abstract

Hb Sitia [β128(H6)Ala → Val] was found in a Greek female with slightly reduced red blood cell indices. The abnormal hemoglobin was indistinguishable from Hb A by electrophoresis but eluted after Hb A on cation exchange high performance liquid chromatography. DNA sequence analysis revealed a GCT → GTT mutation at codon 128, which is predicted to encode an Ala → Val substitution. This was confirmed by mass spectrometry analyses of the β-globin chain. Since alanine at β128(H6) interacts with several amino acids of the α1β1 contact, its replacement by a larger residue results in a mild instability of the molecule and slight modifications of the oxygen binding properties.

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Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

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Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

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