Mavilio F, Marinucci M, Tentori L, Fontanarosa P P, Rossi U, Biagiotti S
Hemoglobin. 1978;2(3):249-59. doi: 10.3109/03630267809007070.
An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (northern Italy) affected with renal failure and iron deficiency anemia, not related to the presence of the Hb variant. Structural studies have demonstrated a previously undescribed amino acid substitution, alpha 141 Arg replaced by Leu. This new variant has been named Hb Legnano, and is characterized by an increased oxygen affinity and a low cooperativity, at least as far as preliminary functional studies carried out on whole blood have indicated. Family studies are reported: three other heterozygous carriers were observed among the relatives of the propositus, all showing a mild polycythemia which, however, does not seem to produce appreciable clinical consequences.
在一名居住在意大利北部莱尼亚诺的34岁男性患者中发现了一种异常的、快速移动的血红蛋白，该患者患有肾衰竭和缺铁性贫血，与血红蛋白变异体的存在无关。结构研究表明存在一种先前未描述的氨基酸替代，即α141位的精氨酸被亮氨酸取代。这种新的变异体被命名为血红蛋白莱尼亚诺，至少就对全血进行的初步功能研究所示，其特征是氧亲和力增加且协同性降低。报告了家系研究情况：在先证者的亲属中观察到另外三名杂合携带者，他们均表现出轻度红细胞增多症，然而，这似乎并未产生明显的临床后果。
