Pathophysiology of thalassaemia
Pathophysiology of thalassaemia
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DOI：
10.1016/s0950-3536(98)80072-3
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发表时间：
1998-03-01
期刊：
影响因子：
--
通讯作者：
Weatherall, DJ
中科院分区：
文献类型：
--
作者：
Weatherall, DJ
β-地中海贫血的大多数主要临床表现可能与珠蛋白链合成失衡对红细胞成熟和红细胞存活的有害影响有关。红细胞祖细胞及其后代的破坏是由一系列极其复杂的机制引起的，所有这些机制都与过量α-珠蛋白链产生的存在有关。这些包括机械损伤，干扰细胞分裂和红细胞膜的细胞器和组分的氧化破坏。不同前体之间的γ-珠蛋白链的不均匀分布，以及对具有相对较高水平的γ链产生的那些的强烈选择，导致外周血中的极其异质的细胞群体。由于胃肠道吸收和输血增加而导致的铁过载是组织损伤、发病和死亡的主要原因。
Most of the major clinical manifestations of the beta-thalassaemias can be related to the deleterious effects of imbalanced globin chain synthesis on erythroid maturation and red cell survival. The destruction of red cell progenitors and their progeny results from an extremely complex series of mechanisms all related to the presence of excess alpha-globin chain production. These include mechanical damage, interference with cell division and oxidative destruction of both organelles and components of the red cell membrane. The unequal distribution of gamma-globin chains between different precursors, and the intense selection of those with relatively higher levels of gamma chain production, lead to an extremely heterogeneous cell population in the peripheral blood. Iron overload, due to increased gastrointestinal absorption and blood transfusion is the major cause of tissue damage, morbidity and death.