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用于定量血红蛋白Bart's(γ4)的羧甲基纤维素微柱色谱法及其在α地中海贫血检测中的应用。

Carboxymethyl-cellulose microchromatography for the quantitation of hemoglobin Bart's (gamma 4) and its use in the detection of the alpha-thalassemia conditions.

作者信息

Henson J B, Carver J R, Wilson J B, Huisman T H

出版信息

J Chromatogr. 1980 Oct 24;198(4):443-8. doi: 10.1016/s0021-9673(00)80513-0.

Abstract

A modification of an existing (micro) CM-cellulose chromatographic procedure is introduced for the quantitation of hemoglobin Bart's (or gamma 4) in blood samples of newborn babies. Normal newborn with four active alpha chain genes (alpha alpha/alpha alpha) have small amounts (average 0.55%) of this abnormal hemoglobin while increased percentages are present in newborn with an alpha-thalassemia-2 heterozygosity (alpha 0 alpha/alpha alpha; average 1.55%) or an alpha-thalassemia-2 homozygosity (alpha 0 alpha/alpha 0 alpha; average 4.65%). The identification of hemoglobin Bart's in normal newborn was made by high-performance liquid chromatography, and the absence of contaminating non-hemoglobin proteins was confirmed by electrophoresis and additional chromatographic experiments. This rapid procedure is useful for the detection and differentiation at time of birth of the different alpha chain deficiencies which are common among various populations in the world.

摘要

本文介绍了一种对现有(微)纤维素色谱法的改进方法,用于定量检测新生儿血样中的血红蛋白Bart's(或γ4)。具有四个活性α链基因(αα/αα)的正常新生儿含有少量(平均0.55%)这种异常血红蛋白,而在α地中海贫血-2杂合子(α0α/αα;平均1.55%)或α地中海贫血-2纯合子(α0α/α0α;平均4.65%)的新生儿中,其百分比会增加。通过高效液相色谱法鉴定正常新生儿中的血红蛋白Bart's,并通过电泳和其他色谱实验确认不存在污染性非血红蛋白蛋白质。这种快速方法有助于在出生时检测和区分世界不同人群中常见的不同α链缺陷。

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