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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 1
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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
 show all
Pages 45-56 | Received 13 Jun 2000, Accepted 08 Sep 2000, Published online: 07 Jul 2009
 
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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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