Lutcher C L, Wilson J B, Gravely M E, Stevens P D, Chen C J, Lindeman J G, Wong S C, Miller A, Gottleib M, Huisman T H
Blood. 1976 Jan;47(1):99-112.
A new unstable hemoglobin, Hb Leslie, has been observed in three generations of a Georgia family. The propositus, a 42-yr-old black veteran with hemolytic anemia and splenomegaly, has a hemoglobin variant with an electrophoretic mobility similar to that of hemoglobin F. The variant comprises about 85% of the total hemoglobin and was isolated by chromatography. Chemical analysis has identified the abnormality as a deletion of the glutaminyl residue in position 131 (H9) of the beta-chain. Deletion of this critical residue which participates in the alpha1beta1 contact causes decreased stability of the hemoglobin without significant changes in functional properties or morphologic abnormalities in the erythrocyte. Family studies revealed hemoglobin Leslie occurring in combination with beta0-thalassemia, HbS, and HbC. All persons with the various Hb Leslie combinations, including the propositus, have no clinical manifestations other than anemia. In some the anemia is fully compensated. There is no history of drug-associated hemolysis.
在佐治亚州一个家族的三代人中发现了一种新的不稳定血红蛋白——Hb莱斯利。先证者是一名42岁的黑人退伍军人，患有溶血性贫血和脾肿大，其血红蛋白变体的电泳迁移率与血红蛋白F相似。该变体约占总血红蛋白的85%，通过色谱法分离得到。化学分析已确定异常情况为β链第131位（H9）的谷氨酰胺残基缺失。这个参与α1β1接触的关键残基的缺失导致血红蛋白稳定性降低，而红细胞的功能特性没有明显变化，也没有形态学异常。家族研究显示，Hb莱斯利与β0地中海贫血、HbS和HbC同时存在。所有携带各种Hb莱斯利组合的人，包括先证者，除贫血外均无临床表现。在一些人中，贫血得到了完全代偿。没有药物相关性溶血的病史。
