Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hb Melusine [alpha 114(GH2)Pro-->Ser] was found in an Algerian patient during a systematic screening for hemoglobinopathies performed in Luxembourg. The abnormal hemoglobin was suspected when a thickening of the Hb A band was observed by isoelectrofocusing. The mutant hemoglobin was silent in all other electrophoretic methods used for presumptive diagnosis with the exception of globin electrophoresis in the presence of Triton X-100. This technique revealed an alpha chain considerably more hydrophobic than normal. The structural abnormality of Hb Melusine concerns position alpha 114(GH2) that belongs to a cluster of hydrophobic residues localized in the N-terminal half of the alpha T-12b tryptic peptide. It has been shown in the case of another variant of that position (Hb Nouakchott), that the replacement of the Pro GH2 by a Leu was responsible for a dramatic increase in the retention time of the alpha polypeptide chain during reversed phase high performance liquid chromatography, much higher than that reported for similar substitutions in other regions of the hemoglobin molecule.
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PMID:Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. 829 99

A new separation method of human globin chains by micellar electrokinetic capillary chromatography (MECC) is described. In this method, a 25 mM phosphate buffer (pH 2.5) containing 7 M urea and 1% (w/v) reduced Triton X-100 buffer system was used. All experiments were performed in a 47 cmx50 microm I.D. uncoated fused-silica capillary. The separation voltage was set at 19 kV. Normal globin chains derived from normal adults and newborns, alpha, beta, delta, Ggamma and Agamma globin chains as well as common variant globin chains were successfully separated within 20 min. High reproducible migration times of globin chains (CVs of intra- and inter-assay were less than 1% and 2% respectively), and quantification of Ggamma and Agamma chains (CVs for intra- and inter-assay were less than 5% and 10%, respectively) were obtained. This new MECC method provides primary information on structural modification of globin chains. It can be an important diagnostic tool in clinical laboratory practice in the field of hemoglobinopathies.
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PMID:Separation of human globin chains by micellar electrokinetic capillary chromatography. 986 63