Efremov G D, Nikolov N, Hattori Y, Bakioglu I, Huisman T H
Blood. 1986 Oct;68(4):971-4.
Restriction endonuclease mapping analyses were made of DNA from a few members of a Macedonian family with hematological characteristics of delta beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains (average 59.5%). A large deletion of 18 to 23 kb was present with a 5' breakpoint within a 670-bp segment of DNA between the HpaI and NcoI restriction sites 5' to the delta globin gene, and a 3' breakpoint between the BamHI and HpaI restriction sites located some 9 to 13 kb 3' to the beta globin gene. This deletion is different from those present in other types of G gamma A gamma(delta beta)zero-thalassemia. The similarity of the hematological expression of these delta beta-thalassemic conditions which have somewhat comparable 5' breakpoints supports the idea that an important fetal hemoglobin-controlling region lies between the psi beta and delta globin genes.
对一个患有δβ地中海贫血血液学特征（即小红细胞症、正常的HbA2水平、以及Gγ（平均40.5%）和AγT链（平均59.5%）导致HbF水平升高（7%至14%））的马其顿家族的几名成员的DNA进行了限制性内切酶图谱分析。存在一个18至23kb的大片段缺失，其5'断点位于δ珠蛋白基因5'端HpaI和NcoI限制性位点之间的一段670bp的DNA片段内，3'断点位于β珠蛋白基因3'端约9至13kb处的BamHI和HpaI限制性位点之间。这种缺失与其他类型的GγAγ（δβ）0地中海贫血中的缺失不同。这些具有一定可比5'断点的δβ地中海贫血病症的血液学表现相似，支持了一个重要的胎儿血红蛋白控制区域位于ψβ和δ珠蛋白基因之间的观点。
