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Hemoglobin
international journal for hemoglobin research
Volume 26, 2002 - Issue 1
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Hb O-TIBESTI [β121(GH4)Glu → Lys; β11(A8)Val → Ile], A HEMOGLOBIN VARIANT CARRYING IN THE SAME β CHAIN THE SUBSTITUTIONS OF Hb O-ARAB AND Hb HAMILTON, FOUND IN COMBINATION WITH Hb S [β6(A3)Glu → Val]

Claude Préhu INSERM U 468, Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Créteil, 94010, France
,
Jean Riou INSERM U 468, Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Créteil, 94010, France
,
Isabelle Sartelet American Memorial Hospital, CHU de Reims, Reims Cedex, Reims, 51092, France
,
Danielle Promé Institut de Chimie Moléculaire Paul Sabatier, FR 1744, Toulouse Cedex 4, Toulouse, 31062, France
,
Catherine Claparols Institut de Chimie Moléculaire Paul Sabatier, FR 1744, Toulouse Cedex 4, Toulouse, 31062, France
,
Mathias Denier INSERM U 468, Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Créteil, 94010, France
,
Jacques Motte American Memorial Hospital, CHU de Reims, Reims Cedex, Reims, 51092, France
,
Frédéric Galactéros INSERM U 468, Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Créteil, 94010, France
&
Henri Wajcman INSERM U 468, Department of Biochemistry, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, Créteil, 94010, France
 show all
Pages 13-20 | Received 13 Jul 2001, Accepted 28 Jul 2001, Published online: 07 Jul 2009
 
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Abstract

Hb O-Tibesti, carries in the same chain the substitution of Hb O-Arab [β121(GH4)Glu → Lys] and that of Hb Hamilton [β11(A8)Val → Ile]. Hb O-Tibesti may be distinguished from Hb O-Arab by polyacrylamide gel electrophoresis in the presence of urea and Triton-X100, and by reversed phase high performance liquid chromatography. It was found in a compound heterozygous condition with Hb S [β6(A3)Glu → Val] in a child of Chad-Sudanese descent, suffering from a sickle cell syndrome. Compared to the classical description of the Hb S/Hb O-Arab association, the additional Hb Hamilton mutation does not seem to modify the clinical presentation.

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