Delanoe-Garin J, Blouquit Y, Arous N, Kister J, Poyart C, North M L, Bardakdjian J, Lacombe C, Rosa J, Galacteros F
INSERM U.91, Hôpital Henri Mondor, Creteil, France.
Hemoglobin. 1988;12(4):337-52. doi: 10.3109/03630268808998034.
A 26-year-old French woman born in Saverne (France) was found to have Heinz body hemolytic anemia. Isoelectrofocusing showed the presence of an abnormal band amounting to 35% of the total hemoglobin concentration, suggesting a beta variant. Structural analysis of the abnormal beta chain showed an elongated C-terminal segment. Histidine 143 is replaced by a proline and the C-terminal sequence is identical to the corresponding segment of Hb Cranston. This new variant, named Hb Saverne, has beta chains composed of 156 amino acid residues. Studies of its functional properties showed that Hb Saverne is an unstable, high affinity variant with low cooperativity.
一名出生于法国萨韦尔恩的26岁法国女性被发现患有海因茨小体溶血性贫血。等电聚焦显示存在一条异常条带，占总血红蛋白浓度的35%，提示为β链变异体。对异常β链的结构分析显示C末端片段延长。组氨酸143被脯氨酸取代，C末端序列与Hb克兰斯顿的相应片段相同。这个新变异体被命名为Hb萨韦尔恩，其β链由156个氨基酸残基组成。对其功能特性的研究表明，Hb萨韦尔恩是一种不稳定、高亲和力且协同性低的变异体。
