Loukopoulos D, Loutradi A, Fessas P
Br J Haematol. 1978 Jul;39(3):377-89. doi: 10.1111/j.1365-2141.1978.tb01109.x.
The disturbed balance of globin chain synthesis is a major factor in the pathophysiology of the thalassaemic disorders; this concept is strongly supported by the study of a patient displaying an extreme but symmetrical deficit of both major types of chains alpha and beta. The patient had a mild clinical picture but presented a striking hypochromia (MCH 10 pg) with compensatory erythrocytosis (RBC 10(12)/l.). Study of the propositus and his family by haematological, biochemical and biosynthetic techniques indicates that the patient carries two alpha- and two beta-thalassaemia genes resulting in balanced globin chain synthesis; in addition, several members of the family carry two or three abnormal genes. During observation a change in the haematological pattern occurred with a shift towards more intensive beta-chain and away from gamma-chaim synthesis; this appeared with be associated with improvement of his anaemia through more effective erythropoiesis.
珠蛋白链合成平衡紊乱是地中海贫血症病理生理学的一个主要因素；对一名表现出α和β两种主要类型链极端但对称缺乏的患者的研究有力地支持了这一概念。该患者临床症状轻微，但呈现出明显的低色素血症（平均红细胞血红蛋白含量10皮克）并伴有代偿性红细胞增多症（红细胞计数10×10¹²/升）。通过血液学、生物化学和生物合成技术对先证者及其家族进行研究表明，该患者携带两个α地中海贫血基因和两个β地中海贫血基因，导致珠蛋白链合成平衡；此外，家族中的几名成员携带两个或三个异常基因。在观察期间，血液学模式发生了变化，向更强烈的β链合成转变，远离γ链合成；这似乎与通过更有效的红细胞生成改善其贫血有关。
