Marinucci M, Mavilio F, Fontanarosa P P, Tentori L, Brancati C
Hemoglobin. 1979;3(5):327-40. doi: 10.3109/03630267908997538.
Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et al (1), and in a French family by Blouquit et al. who studied its functional properties (2). The original family described by Vecchio et al. in which both Hb J Calabria and beta-thalassemia were present has been reexamined and is the subject of the present study. Hematological and clinical features of the carriers are described. The heterozygous carriers of Hb J Calabria showed only mild variable subclinical anemia and levels of the abnormal hemoglobin ranging from about 33 to 42%. The Hb J Calabria/beta-thalassemia double heterozygote showed a moderate chronic hemolytic anemia with alterations of the RBC indices and morphology in addition to splenomegaly. The relationship between structural abnormality, functional properties and clinical expression of Hb J Calabria is discussed.
血红蛋白J卡拉布里亚是一种快速移动的血红蛋白变异体，由韦基奥等人（1）在一个意大利家族中发现，布卢基特等人在一个法国家族中发现并研究了其功能特性（2）。韦基奥等人最初描述的那个同时存在血红蛋白J卡拉布里亚和β地中海贫血的家族已被重新检查，也是本研究的对象。文中描述了携带者的血液学和临床特征。血红蛋白J卡拉布里亚的杂合子携带者仅表现出轻度的、可变的亚临床贫血，异常血红蛋白水平约为33%至42%。血红蛋白J卡拉布里亚/β地中海贫血双重杂合子表现为中度慢性溶血性贫血，除脾肿大外，红细胞指数和形态也有改变。文中讨论了血红蛋白J卡拉布里亚的结构异常、功能特性与临床表型之间的关系。
