Hemoglobin redondo [β 92(F8) His → Asn]: An unstable hemoglobin variant associated with heme loss which occurs in two forms
Hemoglobin redondo [β 92(F8) His → Asn]: An unstable hemoglobin variant associated with heme loss which occurs in two forms
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血红蛋白 redondo [β 92(F8) His → Asn]：一种与血红素损失相关的不稳定血红蛋白变体，以两种形式出现
DOI：
10.1002/ajh.2830380308
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发表时间：
1991
影响因子：
12.8
通讯作者：
M. Martins
中科院分区：
文献类型：
--
作者：
H. Wajcman;Corinne Vasseur;C. Poyart;Y. Blouquit;F. Galactéros;D. Santo;M. Peres;M. Martins
Hb Redondo [β92(F8) His→Asn] 说明了翻译后结构修饰如何改变不稳定血红蛋白的表型表达。这种变异是在一名患有慢性溶血性贫血的葡萄牙患者身上发现的。电泳图谱表明它以两种形式出现，均为半血红蛋白：迁移最快的一种如 HbS，另一种如 HbA2；在 4°C 下储存几天后，最慢 Hb 部分的强度下降，而其他部分的强度成比例增加。在这两种情况下，对氨乙基化 β 链的胰蛋白酶消化物进行的 RP-HPLC 分析表明存在携带 His→Asx 取代的异常 βT10 肽。这两种肽的微序列研究表明，最慢的异常 Hb 部分具有 β92 His → Asn 取代，而最快的异常 Hb 部分在同一位点具有 His → Asp 取代。
Hb Redondo [β92(F8) His→Asn] illustrates how post‐translational structural modifications may modify the phenotypic expression of an unstable hemoglobin. This variant was found in a Portuguese patient suffering from a chronic hemolytic anemia. The electrophoretic pattern demonstrated that it occurred in two forms, both being semi‐hemoglobins: the fastest one migrating like HbS and the other like HbA2; after a few days of storage at 4°C the intensity of the slowest Hb fraction decreased while that of the other increased proportionally. In both cases, the RP‐HPLC analysis of the tryptic digest of the aminoethylated β chains demonstrated the presence of an abnormal βT10 peptide carrying a His→Asx substitution. Microsequence study of these two peptides demonstrated that the slowest abnormal Hb fraction had a β92 His → Asn substitution and the fastest a His → Asp at the same site.