Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis.

Abstract

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).

• Authors: P Groff, G Kalmes, B Golinska, A Miyazaki, J Riou, N Carte, D Promé, J Kister, F Galactéros, H Wajcman
• Journal: Hemoglobin (Hemoglobin) Vol. 24 Issue 4 Pg. 287-97 (Nov 2000) ISSN: 0363-0269 [Print] England
• PMID: 11186258 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal

Topics

• Chromatography, High Pressure Liquid
• Hemoglobins, Abnormal (analysis, chemistry, genetics)
• Humans
• Male
• Middle Aged
• Pedigree
• Point Mutation