rdf:type |
|
lifeskim:mentions |
umls-concept:C0019046,
umls-concept:C0022192,
umls-concept:C0024337,
umls-concept:C0042285,
umls-concept:C0062244,
umls-concept:C0062327,
umls-concept:C0205195,
umls-concept:C0205419,
umls-concept:C0206243,
umls-concept:C0330390,
umls-concept:C0332285,
umls-concept:C0337112,
umls-concept:C1143462,
umls-concept:C1524075,
umls-concept:C1555721,
umls-concept:C1706204
|
pubmed:issue |
1
|
pubmed:dateCreated |
2002-4-9
|
pubmed:abstractText |
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.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
0363-0269
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
26
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
13-20
|
pubmed:dateRevised |
2010-11-18
|
pubmed:meshHeading |
pubmed-meshheading:11939508-Amino Acid Substitution,
pubmed-meshheading:11939508-Blood Protein Electrophoresis,
pubmed-meshheading:11939508-Chad,
pubmed-meshheading:11939508-Child,
pubmed-meshheading:11939508-Chromatography, High Pressure Liquid,
pubmed-meshheading:11939508-France,
pubmed-meshheading:11939508-Globins,
pubmed-meshheading:11939508-Hemoglobin, Sickle,
pubmed-meshheading:11939508-Hemoglobins, Abnormal,
pubmed-meshheading:11939508-Heterozygote,
pubmed-meshheading:11939508-Humans,
pubmed-meshheading:11939508-Hydrophobic and Hydrophilic Interactions,
pubmed-meshheading:11939508-Male,
pubmed-meshheading:11939508-Sickle Cell Trait,
pubmed-meshheading:11939508-Sudan
|
pubmed:year |
2002
|
pubmed:articleTitle |
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].
|
pubmed:affiliation |
INSERM U 468 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, France.
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports
|