Mirabile E, Testa R, Consalvo C, Dickerhoff R, Schilirò G
Division of Pediatric Hematology and Oncology, University of Catania, Italy.
Eur J Haematol. 1995 Aug;55(2):126-30. doi: 10.1111/j.1600-0609.1995.tb01822.x.
The hemoglobin (Hb) lepore-Boston is a beta-globin structural variant, produced in a reduced amount and formed from the fusion of N-terminus delta-(residues 1-87) and C-terminus beta-chains (residues 116-146). This type of fusion protein is quite common in Southern Italy (Campania, Calabria, and Sicily). We report here the hematological and hemoglobin data on 96 unrelated Sicilians with Hb lepore trait. Particularly interesting are the subjects where Hb lepore occurs with Hb S or Sicilian type delta beta-thalassemia. In these individuals, striking features are clinical variability and different hematological pictures. These observations underscore the importance of thalassemia screening in these geographic areas, such as Southern Italy, principally Sicily, where the mutations in globin gene clusters are especially prevalent. Moreover, as from the second half of the last century, owing to high migratory flux from Sicily to Northern Europe, North and South America, and Australia, the Hb lepore, as well as other hemoglobin variants, have become prevalent, making the identification of the heterozygotes a problem of general interest.
血红蛋白 Lepore-波士顿是一种β-珠蛋白结构变异体，产量减少，由 N 端δ链（第 1 - 87 位氨基酸）和 C 端β链（第 116 - 146 位氨基酸）融合形成。这种类型的融合蛋白在意大利南部（坎帕尼亚、卡拉布里亚和西西里岛）相当常见。我们在此报告 96 名具有血红蛋白 Lepore 特征的无亲缘关系西西里人的血液学和血红蛋白数据。特别有趣的是血红蛋白 Lepore 与血红蛋白 S 或西西里型δβ地中海贫血同时出现的个体。在这些个体中，显著特征是临床变异性和不同的血液学表现。这些观察结果强调了在这些地理区域，如意大利南部，主要是西西里岛，进行地中海贫血筛查的重要性，在这些地区珠蛋白基因簇的突变尤为普遍。此外，自上世纪下半叶以来，由于从西西里岛向北欧、南北美洲和澳大利亚的高移民潮，血红蛋白 Lepore 以及其他血红蛋白变异体变得普遍，使得杂合子的鉴定成为一个普遍关注的问题。
