Godeau J F, Beuzard Y G, Cacheleux J, Brizard C P, Gibaud A, Rosa J
J Biol Chem. 1976 Jul 25;251(14):4346-54.
The unstable hemoglobin (Hb) Saint Etienne (alpha2beta295F8 His replaced by G1n) (betaSE) was found in the red blood cells of an 8-year-old boy. The composition of this hemoglobin was 26% Saint Etienne, 52% A, 3% A2 and 19% HbF. Studies of hemoglobin synthesis indicate: a) a balanced synthesis of alpha and non-alpha chains (alpha=betaA + betaSE + gamma), b) an increased pool of free alpha hemoglobin chains, and c) a rapid exchange of alpha chains between this pool and HbSE. The alpha chain pool resulted from the dissociation of HbSE and the greater instability of betaSE chains than alpha chains upon heating. Hemoglobin F is of the fetal type and is heterogeneously distributed among the red cells. Furthermore, two populations of red blood cells could be separated according to their i antigen content. Analysis of the hemoglobins revealed a heterogeneous distribution. Thus, F hemoglobin was preferentially associated with cells having low i antigen level, while Saint Etienne hemoglobin was increased in cells having a high i antigen level. HbF and HbSE were not present in the parents of the propositus. Study of the genetic markers confirmed the filiation. The parents were normal upon clinical and hematological examination; they exhibited a normal pattern and synthesis of hemoglobin. The Hb Saint Etienne case is compared with Hb Istanbul, which in spite of the same amino acid substitution is not associated with increased HbF level.
在一名8岁男孩的红细胞中发现了不稳定血红蛋白（Hb）圣艾蒂安（α2β295F8组氨酸被谷氨酰胺取代）（βSE）。这种血红蛋白的组成是26%圣艾蒂安、52%A、3%A2和19%HbF。血红蛋白合成研究表明：a）α链和非α链（α=βA + βSE + γ）的合成平衡，b）游离α血红蛋白链池增加，c）该池与HbSE之间α链快速交换。α链池是由HbSE的解离以及加热时βSE链比α链更大的不稳定性导致的。血红蛋白F是胎儿型，在红细胞中呈异质性分布。此外，根据其i抗原含量可以分离出两类红细胞。血红蛋白分析显示其分布不均一。因此，F血红蛋白优先与i抗原水平低的细胞相关，而圣艾蒂安血红蛋白在i抗原水平高的细胞中增加。先证者的父母不存在HbF和HbSE。对遗传标记的研究证实了亲子关系。父母临床和血液学检查正常；他们表现出正常的血红蛋白模式和合成。将Hb圣艾蒂安病例与Hb伊斯坦布尔进行了比较，尽管两者氨基酸取代相同，但Hb伊斯坦布尔与HbF水平升高无关。
