在一个法裔高加索家庭中发现的血红蛋白普罗维登斯（α2β2 82（EF6）赖氨酸→天冬酰胺或天冬氨酸）新病例。结构与功能研究。

A new case of hemoglobin Providence (alpha 2 beta 2 82 (EF6) Lys----Asn or Asp) discovered in a French Caucasian family. Structural and functional studies.

作者信息

Bardakjian J, Leclerc L, Blouquit Y, Oules O, Rafaillat D, Arous N, Bohn B, Poyart C, Rosa J, Galacteros F

出版信息

Hemoglobin. 1985;9(4):333-48. doi: 10.3109/03630268508997009.

Abstract

A new case of Hb Providence was discovered in a French caucasian family presenting a mild polycythemia. Structural and functional studies of the two abnormal fractions (Hb Providence Asn and Asp) have been performed. These confirm the abnormal characteristics of Hb Providence described previously. Red cells containing Hb Providence were fractionated with a Percoll Albumin density gradient. The respective amounts of the two components were determined in the youngest and oldest cells. We observed a slight increase of Hb Providence Asp from 34 to 37% during the life span of the erythrocytes which confirms that the deamidation of Hb Providence Asn to Hb Providence Asp is a fast process, already present and close to its maximum, in the reticulocytes. Both abnormal components are stable in the presence of isopropanol.

摘要

在一个患有轻度红细胞增多症的法裔白种人家庭中发现了一例新的普罗维登斯血红蛋白（Hb Providence）病例。已对两种异常组分（普罗维登斯血红蛋白天冬酰胺型和天冬氨酸型）进行了结构和功能研究。这些研究证实了先前描述的普罗维登斯血红蛋白的异常特征。含有普罗维登斯血红蛋白的红细胞用聚蔗糖白蛋白密度梯度进行了分级分离。在最年轻和最老的细胞中测定了两种组分各自的含量。我们观察到在红细胞的生命周期中，普罗维登斯血红蛋白天冬氨酸型从34%略微增加到37%，这证实了普罗维登斯血红蛋白天冬酰胺型向普罗维登斯血红蛋白天冬氨酸型的脱酰胺作用是一个快速过程，在网织红细胞中已经存在且接近其最大值。在异丙醇存在的情况下，两种异常组分都是稳定的。