Pathophysiology of thalassemia
Pathophysiology of thalassemia
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DOI：
10.1097/00062752-200203000-00007
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发表时间：
2002-03-01
影响因子：
3.2
通讯作者：
Schrier, SL
中科院分区：
文献类型：
--
作者：
Schrier, SL
尽管发现了导致地中海贫血综合征的分子异常，但仍然不知道β地中海贫血中过量的不匹配α-珠蛋白和α地中海贫血中β-珠蛋白的积累如何导致外周血中的红细胞溶血，特别是在β地中海贫血中，骨髓中红细胞前体的过早破坏（无效红细胞生成）。氧化损伤可能引起溶血，但没有证据表明它会导致无效的红细胞生成。血红蛋白E/β地中海贫血现在是一个世界性的临床问题。该综合征的异质性和偶尔的严重程度的原因仍然不清楚。无效的红细胞生成现在似乎是由加速的细胞凋亡引起的，而细胞凋亡又主要是由红细胞前体中α-珠蛋白链的沉积引起的。然而，目前还不清楚α-珠蛋白沉积如何引起细胞凋亡。作者使用新的观察控制红细胞生成提供了一个框架，研究增强地中海贫血红细胞凋亡。Curr Opin Hematol 2002，9：123-126（C）2002 Lippincott威廉姆斯威尔金斯公司
Despite discoveries concerning the molecular abnormalities that led to the thalassemic syndromes, it still is not known how accumulation of excess unmatched alpha-globin in beta thalassemia and beta-globin in alpha thalassemia leads to red blood cell hemolysis in the peripheral blood, and in the beta thalassemias particularly, premature destruction of erythroid precursors in marrow (ineffective erythropoiesis). Oxidant injury may cause hemolysis, but there is no evidence that it causes ineffective erythropoiesis. Hemoglobin E/beta thalassemia is now a worldwide clinical problem. The reasons underlying the heterogeneity and occasional severity of the syndrome remain obscure. Ineffective erythropoiesis now appears to be caused by accelerated apoptosis, in turn caused primarily by deposition of alpha-globin chains in erythroid precursors. However, it is not clear how alpha-globin deposition causes apoptosis. The author uses new observations on the control of erythropoiesis to provide a framework for studying the enhanced thalassemic erythroid apoptosis. Curr Opin Hematol 2002, 9:123-126 (C) 2002 Lippincott Williams Wilkins, Inc.