Hb Ernz [beta 123(H1)Thr -> Asn] and Hb Renert [beta 133(H11)Val -> Ala]: Two new neutral variants revealed by reversed phase high performance liquidchromatography analysis

Citation
P. Groff et al., Hb Ernz [beta 123(H1)Thr -> Asn] and Hb Renert [beta 133(H11)Val -> Ala]: Two new neutral variants revealed by reversed phase high performance liquidchromatography analysis, HEMOGLOBIN, 24(4), 2000, pp. 287-297
Citations number
14
Categorie Soggetti
Biochemistry & Biophysics
Journal title
HEMOGLOBIN
ISSN journal
03630269 → ACNP
Volume
24
Issue
4
Year of publication
2000
Pages
287 - 297
Database
ISI
SICI code
0363-0269(2000)24:4<287:HE[1-A>2.0.ZU;2-K
Abstract
Analysis of globin chains by reversed phase high performance liquid chromat ography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only diff erences in hydrophobicity, Two such variants are here described. Hb Ernz wa s found in a man of Italian origin who was polycythemic, and in two of his three daughters who mere hematologically normal. Hb Renert, a slightly unst able variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. The structural abnormalities were charact erized by protein structure methods involving revel sed phase high performa nce liquid chromatographic separations of globins and peptides, followed by mass spectrometry studies (electrospray, ion trap, tandem mass spectrometr y).