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一种新的α链变体,Hb 图里夫[α99(G6)赖氨酸→谷氨酸]:异常血红蛋白对糖化血红蛋白(Hb A1c)测定的干扰。

A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys----Glu]: the interference of abnormal hemoglobins in Hb A1c determination.

作者信息

Langdown J V, Davidson R J, Williamson D

机构信息

Department of Haematology, Addenbrooke's Hospital, Cambridge, U.K.

出版信息

Hemoglobin. 1992;16(1-2):11-7. doi: 10.3109/03630269209005671.

DOI:10.3109/03630269209005671
PMID:1634357
Abstract

Hb Turriff is a new hemoglobin variant which we have identified in a diabetic individual. During the determination of Hb A1c by high performance liquid chromatography, an inappropriately elevated result was found to be due to the abnormal hemoglobin chromatographing with the Hb A1c fraction. This new hemoglobin variant, Hb Turriff [alpha 99(G6)Lys----Glu], is not associated with any hematological disturbance, and family investigations indicate that it has arisen as a de novo mutation.

摘要

Hb Turriff是我们在一名糖尿病患者中发现的一种新的血红蛋白变体。在通过高效液相色谱法测定糖化血红蛋白(Hb A1c)时,发现结果异常升高是由于异常血红蛋白与Hb A1c组分一起进行色谱分离所致。这种新的血红蛋白变体,即Hb Turriff [α99(G6)赖氨酸→谷氨酸],与任何血液学紊乱均无关联,家族调查表明它是作为一种新发突变出现的。

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Hemoglobin. 1992;16(1-2):11-7. doi: 10.3109/03630269209005671.
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引用本文的文献

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Hemoglobin variants: biochemical properties and clinical correlates.血红蛋白变体:生化特性与临床关联。
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Analysis of human alpha globin gene mutations that impair binding to the alpha hemoglobin stabilizing protein.
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