Groff P, Kalmes G, Golinska B, Miyazaki A, Riou J, Carte N, Promé D, Kister J, Galactéros F, Wajcman H
Laboratoire National de Santé, Division d'Hématologie Laboratoire des Hémoglobines, Luxembourg.
Hemoglobin. 2000 Nov;24(4):287-97. doi: 10.3109/03630260008993135.
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).
通过反相高效液相色谱法分析珠蛋白链，作为表征血红蛋白变体的一种额外工具，已导致发现一类新的变体，它们仅在疏水性上存在差异。本文描述了两种这样的变体。在一名患有红细胞增多症的意大利裔男子及其三名血液学正常的女儿中的两人身上发现了Hb Ernz。Hb Renert是一种略有不稳定的变体，在一名来自佛得角的男子身上发现，该男子还携带Hb S并伴有慢性溶血。通过蛋白质结构方法对结构异常进行了表征，这些方法包括对珠蛋白和肽进行反相高效液相色谱分离，随后进行质谱研究（电喷雾、离子阱、串联质谱）。
