Efremov G D
Hemoglobin. 1978;2(3):197-233. doi: 10.3109/03630267809007068.
The structure, properties, genetics, and clinical and biochemical expression of hemoglobins Lepore (deltabeta) and anti-Lepore (betadelta) are described. In addition to the three Lepore variants (Lepore Hollandia, Lepore Baltimore and Lepore Washington) at least four anti-Lepore variants (Miyada, P Nilotic (P Congo), Coventry and Lincoln Park) are known at the present time. All known hemoglobins Lepore and anti-Lepore are products of non-homologous crossing-over between the delta and the beta genes. Although the Hb Lepore condition is expressed phenotypically and clinically as beta thalassemia, the presence of about 10% of Hb Lepore distinguishes the condition hematologically from beta thalassemia. Data on the hematological and biochemical expression of this hemoglobinopathy are presented. In contrast to the anemia in the Lepore condition, there is no phenotypic evidence of thalassemia in persons with hemoglobin anti-Lepore, because no beta chain deficiency accompanies the latter condition. Although no adequate explanation has been advanced concerning the factors which maintain a low synthesis of the Lepore and anti-Lepore chains, it has been suggested that multiple rare codons may introduce rate-limiting steps or that the deltabeta and betadelta mRNAs may be unstable. Data on the geographical distribution and structural identification of Hb Lepore are presented.
本文描述了血红蛋白 Lepore（δβ）和反 Lepore（βδ）的结构、特性、遗传学以及临床和生化表现。除了三种 Lepore 变体（Lepore Hollandia、Lepore Baltimore 和 Lepore Washington）外，目前已知至少四种反 Lepore 变体（Miyada、P Nilotic（P Congo）、Coventry 和 Lincoln Park）。所有已知的血红蛋白 Lepore 和反 Lepore 都是δ基因和β基因之间非同源交叉的产物。虽然 Hb Lepore 病症在表型和临床上表现为β地中海贫血，但约 10%的 Hb Lepore 的存在使其在血液学上与β地中海贫血有所区别。本文给出了这种血红蛋白病的血液学和生化表现数据。与 Lepore 病症中的贫血情况相反，血红蛋白反 Lepore 患者没有地中海贫血的表型证据，因为后者不存在β链缺乏的情况。尽管对于维持 Lepore 和反 Lepore 链低合成的因素尚未有充分解释，但有人提出多个稀有密码子可能引入限速步骤，或者δβ和βδ mRNA 可能不稳定。本文还给出了 Hb Lepore 的地理分布和结构鉴定数据。
