Bianco I, Graziani B, Carboni C
Hum Hered. 1977;27(4):257-72. doi: 10.1159/000152877.
Globin chain synthesis has been studied in 17 patients with thalassemia intermedia, and their relatives, also investigated by routine hematologic and hemoglobinic tests. The mean a/non a ratio was always around 2.20-2.30. In patients with severe thalassemia major, used as a control, the mean a/non a ratio was significantly higher, that is 3.11-3.07. Therefore, the hypothesis that the cause of the lesser severity of the thalassemia intermedia is a lesser imbalance of globin chain synthesis, is suggested. One or both the parents of patients with thalassemia intermedia have mild beta-thalassemia and normal alpha/beta ratio, whereas the parents of patients with severe thalassemia major show a marked beta-thalassemia and a mean alpha/beta ration of 1.76. These data suggest that genes for beta +-thalassemia are responsible for thalassemia intermedia, and genes for beta o-thalassemia are responsible for thalassemia major. In two patients with thalassemia intermedia, the association of an alpha-thalassemia gene with homozygous beta-thalassemia that it is well known to reduce the globin chain imbalance typical of the beta-thalassemia, has also been observed.
对17例中间型地中海贫血患者及其亲属进行了珠蛋白链合成研究，同时也通过常规血液学和血红蛋白检测对他们进行了调查。平均α/非α比值始终在2.20 - 2.30左右。作为对照的重型地中海贫血患者，其平均α/非α比值显著更高，即3.11 - 3.07。因此，有人提出中间型地中海贫血病情较轻的原因是珠蛋白链合成失衡较小这一假说。中间型地中海贫血患者的父母一方或双方患有轻度β地中海贫血且α/β比值正常，而重型地中海贫血患者的父母则表现出明显的β地中海贫血，平均α/β比值为1.76。这些数据表明，β + -地中海贫血基因与中间型地中海贫血有关，而β0 -地中海贫血基因与重型地中海贫血有关。在两名中间型地中海贫血患者中，还观察到α地中海贫血基因与纯合β地中海贫血相关联，众所周知，这种关联会减少β地中海贫血典型的珠蛋白链失衡。
