Cividalli G, Kerem H, Ezeckiel E, Rachmilewitz E A
Blood. 1978 Aug;52(2):345-9.
Three patients with a relatively mild form of beta O-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C-leucine. gamma/alpha Synthetic ratios in peripheral blood were in the same range as in patients with the severe clinical form of beta O-thalassemia, while gamma/alpha synthetic ratios in bone marrow cells were higher than in that group of patients. The size of the free alpha-chain pool measured in one case was smaller than in other patients with "classical" Cooley anemia. It is concluded that the severity of the clinical course in beta O-thalassemia does not correlate with the imbalance in alpha verus gamma chain synthesis in peripheral blood and is determined by the synthetic ratio in bone marrow cells, where the bulk of hemoglobin synthesis takes place.
本文描述了三名相对轻度的β⁰地中海贫血患者，他们不需要定期输血。通过凝胶过滤和尿素-羧甲基纤维素色谱法研究了用¹⁴C-亮氨酸体外标记的外周血和骨髓细胞制备的无基质溶血产物中的珠蛋白合成。外周血中的γ/α合成比率与重度临床型β⁰地中海贫血患者的比率范围相同，而骨髓细胞中的γ/α合成比率高于该组患者。在一例中测得的游离α链池大小比其他“典型”库利贫血患者小。得出的结论是，β⁰地中海贫血临床病程的严重程度与外周血中α链与γ链合成的失衡无关，而是由骨髓细胞中的合成比率决定的，因为大部分血红蛋白合成发生在骨髓细胞中。
