1.
Hemoglobin
; 27(1): 27-30, 2003 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12603090
Assuntos
Hemoglobina Fetal/genética , Globinas/genética , Hemoglobina M/genética , Hemoglobinopatias/genética , Cianose/etiologia , Desoxirribonucleases de Sítio Específico do Tipo II , Hemoglobina Fetal/análise , França , Hemoglobina M/análise , Hemoglobinopatias/complicações , Humanos , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição
2.
Hemoglobin
; 26(1): 13-20, 2002 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11939508
RESUMO
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.
