Hb Ernz Iβ123(Hl)Thr→Asn] and Hb Renert Iβ133(H1l)Val →Ala]: Two new Neutral Variants Revealed by Reversed Phase High Performance Liquid Chromatography Analysis

Autor:	B Golinska, A. Miyazaki, G. Kalmes, Frédéric Galactéros, Jean Kister, D Promé, P. Groff, Henri Wajcman, Jérémie Riou, N Carte
Rok vydání:	2000
Předmět:	Electrospray Chromatography Stereochemistry Chemistry Biochemistry (medical) Clinical Biochemistry Hemoglobin variants Hematology Mass spectrometry Tandem mass spectrometry High-performance liquid chromatography Cape verde Globin Ion trap Genetics (clinical)
Zdroj:	Hemoglobin. 24:287-297
ISSN:	1532-432X 0363-0269
Popis:	Analysis of globin chains by reversed phase high performance liquid chromatography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only differences in hydrophobicity. Two such variants are here described. Hb Ernz was found in a man of Italian origin who was polycythemic, and in two of his three daughters who were hematologically normal. Hb Renert, a slightly unstable variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. The structural abnormalities were characterized by protein structure methods involving reversed phase high performance liquid chromatographic separations of globins and peptides, followed by mass spectrometry studies (electrospray, ion trap, tandem mass spectrometry).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::ee38e37152ac09c6d411bc52d28a0d5d https://doi.org/10.3109/03630260008993135 Zobrazit plný text záznamu