Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the substitutions of Hb O-Arab and Hb Hamilton, found in combination with Hb S [beta6(A3)Glu-->Val].
Hb O-Tibesti, carries in the same chain the substitution of Hb O-Arab [beta121(GH4)Glu-->Lys] and that of Hb Hamilton [beta11(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 [beta6(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.
Préhu
Claude
C
INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, France.
Riou
Jean
J
Sartelet
Isabelle
I
Promé
Danielle
D
Claparols
Catherine
C
Denier
Mathias
M
Motte
Jacques
J
Galactéros
Frederic
F
Wajcman
Henri
H
D019943:Amino Acid Substitution; D001797:Blood Protein Electrophoresis; D002596:Chad / Q000208:ethnology; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005602:France; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics / Q000302:isolation & purification*; D006579:Heterozygote; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D008297:Male; D012805:Sickle Cell Trait / Q000235:genetics*; D013397:Sudan / Q000208:ethnology
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C465354:hemoglobin O-Tibesti; C040089:hemoglobin Hamilton; D005914:Globins; C032031:hemoglobin Arab