Benz E J, Pritchard J, Hillman D, Glass J, Forget B G
Am J Hematol. 1984 Jan;16(1):33-45. doi: 10.1002/ajh.2830160105.
RNA from bone marrow erythroblasts and peripheral blood reticulocytes of patients with heterozygous beta-thalassemia was analyzed for relative content of alpha and beta globin messenger RNA by molecular hybrization. Erythroblasts from nonthalassemic patients exhibited approximately the same alpha and beta globin mRNA content (beta/alpha mRNA ratio = 0.8-1.0) as circulating reticulocytes (beta/alpha mRNA ratio = 0.74-1.2). The mRNA ratios corresponded well to levels of globin synthesis observed in bone marrow and peripheral blood. Erythroblasts from four patients with heterozygous beta-thalassemia also exhibited approximately the same beta/alpha mRNA ratios in bone marrow erythroblasts (0.34-0.59) as in reticulocytes (0.34-0.4): beta globin mRNA was clearly deficient in bone marrow erythroblasts. Globin biosynthesis by erythroblasts of beta-thalassemia heterozygotes was balanced despite the mRNA deficiency (beta/alpha = 0.9-1.0), suggesting that post-translational phenoma (eg, proteolysis of free globin chains), rather than instability of beta mRNA, accounts for the balanced globin chain synthesis frequently observed in bone marrow erythroblasts of patients with beta-thalassemia trait.
通过分子杂交分析了杂合子β地中海贫血患者骨髓成红细胞和外周血网织红细胞中α和β珠蛋白信使核糖核酸（mRNA）的相对含量。非地中海贫血患者的成红细胞与循环网织红细胞表现出大致相同的α和β珠蛋白mRNA含量（β/α mRNA比率 = 0.8 - 1.0）（β/α mRNA比率 = 0.74 - 1.2）。mRNA比率与在骨髓和外周血中观察到的珠蛋白合成水平非常吻合。4例杂合子β地中海贫血患者的成红细胞在骨髓成红细胞（0.34 - 0.59）和网织红细胞（0.34 - 0.4）中的β/α mRNA比率也大致相同：β珠蛋白mRNA在骨髓成红细胞中明显缺乏。尽管存在mRNA缺乏，但β地中海贫血杂合子成红细胞的珠蛋白生物合成是平衡的（β/α = 0.9 - 1.0），这表明翻译后现象（例如，游离珠蛋白链的蛋白水解）而非β mRNA的不稳定性，是β地中海贫血特征患者骨髓成红细胞中经常观察到的珠蛋白链合成平衡的原因。
