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Hemoglobin ; 26(1): 13-20, 2002 Feb.
Article in English | MEDLINE | ID: mdl-11939508

ABSTRACT

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.


Subject(s)
Amino Acid Substitution , Globins/genetics , Hemoglobin, Sickle/genetics , Hemoglobins, Abnormal/chemistry , Hemoglobins, Abnormal/isolation & purification , Sickle Cell Trait/genetics , Blood Protein Electrophoresis , Chad/ethnology , Child , Chromatography, High Pressure Liquid , France , Globins/chemistry , Hemoglobins, Abnormal/genetics , Heterozygote , Humans , Hydrophobic and Hydrophilic Interactions , Male , Sudan/ethnology
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