Costa F F, Zago M A
J Med Genet. 1986 Jun;23(3):252-5. doi: 10.1136/jmg.23.3.252.
A similar imbalance of globin chain synthesis, with low non-alpha/alpha ratios, was shown in peripheral blood and in bone marrow of compound heterozygotes for both the Hb S and beta zero thalassaemia genes (S/beta zero thalassaemia). Previous purification of whole cell globin obtained from the bone marrow did not change the non-alpha/alpha ratio. The mean non-alpha/alpha ratios were 0.57 +/- 0.13 (means +/- SD) for the peripheral blood of 12 patients, 0.52 +/- 0.10 for five patients using bone marrow globin purified on Sephadex G100, and 0.55 +/- 0.16 for the unfiltered bone marrow globin of five patients. The data show that patients with S/beta zero thalassaemia have a similar beta chain deficiency in reticulocytes and in bone marrow cells, provided whole cell globin is used which avoids the removal of the free alpha chains. The non-alpha/alpha ratios in the peripheral blood of an S/beta zero thalassaemia patient and a beta thalassaemia heterozygote from the same family were compared in seven families and no significant difference was found.
对于携带血红蛋白S（Hb S）和β0地中海贫血基因的复合杂合子（S/β0地中海贫血），其外周血和骨髓中也表现出类似的珠蛋白链合成失衡，即非α/α链比例较低。先前从骨髓中获得的全细胞珠蛋白经纯化后，非α/α链比例并未改变。12例患者外周血的平均非α/α链比例为0.57±0.13（均值±标准差），5例使用经Sephadex G100纯化的骨髓珠蛋白患者的该比例为0.52±0.10，5例未过滤的骨髓珠蛋白患者的该比例为0.55±0.16。数据表明，若使用全细胞珠蛋白以避免游离α链的去除，S/β0地中海贫血患者的网织红细胞和骨髓细胞中存在类似的β链缺陷。在7个家庭中比较了一名S/β0地中海贫血患者和同一家族中一名β地中海贫血杂合子的外周血非α/α链比例，未发现显著差异。
