Villegas A, Espinós D, Alvarez-Sala J L, Calero F, Valverde F, Robb L, Lehmann H
Acta Haematol. 1983;69(3):192-4. doi: 10.1159/000206888.
Description of the clinical, haematological and biochemical aspects of a new family with heterozygous haemoglobin LeporeBaltimore. Of the 6 members affected. 4 were totally asymptomatic. All of them showed morphologic features of heterozygous beta-thalassaemia. The levels of haemoglobin Lepore ranged from 12.2 to 15% (mean value: 13.7 +/- 1.1%). The analysis of the primary structure of the haemoglobin shows that crossing over takes place between amino acid 50 of the delta-chain and amino acid 86 of the beta-chain. This is the third family, to our knowledge, with haemoglobin LeporeBaltimore so far described.
一个携带杂合型血红蛋白 LeporeBaltimore 的新家族的临床、血液学和生化特征描述。在 6 名受影响成员中，4 人完全无症状。他们均表现出杂合型β地中海贫血的形态学特征。血红蛋白 Lepore 的水平在 12.2%至 15%之间（平均值：13.7 +/- 1.1%）。对血红蛋白一级结构的分析表明，交叉发生在δ链的第 50 个氨基酸和β链的第 86 个氨基酸之间。据我们所知，这是迄今描述的第三个携带血红蛋白 LeporeBaltimore 的家族。
