埃文斯顿血红蛋白：α14（A12）位色氨酸突变为精氨酸。一种与α地中海贫血-2相关的变异血红蛋白。

Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.

作者信息

Moo-Penn W F, Baine R M, Jue D L, Johnson M H, McGuffey J E, Benson J M

出版信息

Biochim Biophys Acta. 1983 Sep 14;747(1-2):65-70. doi: 10.1016/0167-4838(83)90122-x.

Abstract

Hb Evanston (alpha 14 Trp leads to Arg) was detected on cellulose acetate at pH 8.4 as a band with an electrophoretic mobility similar to that of Hb S. In addition, a band migrating cathodic to Hb A2 suggested the presence of a variant Hb A2 with a substitution in the alpha-chain, a fact that was later confirmed by structural analysis. An unusual feature of Hb Evanston is its low percentage; less than 10% occurs in the hemolysate. Studies indicate that the variant is not unstable, but there appears to be a defect in globin-chain synthesis. Gene mapping also shows that it is associated with the alpha-thalassemia-2 gene. The variant has high oxygen affinity with normal cooperativity and a normal Bohr effect. The combination of Hb Evanston with alpha-thalassemia-2 produced anemia in this black family.

摘要

在pH 8.4的醋酸纤维素上检测到埃文斯顿血红蛋白（α14色氨酸突变为精氨酸），其电泳条带迁移率与血红蛋白S相似。此外，一条向阴极迁移至血红蛋白A2的条带表明存在一种α链有替代突变的变异型血红蛋白A2，这一事实后来通过结构分析得到证实。埃文斯顿血红蛋白的一个不寻常特征是其百分含量较低；在溶血产物中的含量不到10%。研究表明该变异型并非不稳定，但似乎存在珠蛋白链合成缺陷。基因定位还显示它与α地中海贫血-2基因相关。该变异型具有高氧亲和力、正常的协同性和正常的玻尔效应。在这个黑人家庭中，埃文斯顿血红蛋白与α地中海贫血-2的组合导致了贫血。