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从基因水平对血红蛋白H病进行研究,收获颇丰,成为当今分子生物学科内非常活跃的领域之一。该症起因于α珠蛋白结构基因缺失或功能障碍,导致α珠蛋白合成严重不足,使正常人HbA合成减少,相对过量的β链积聚形成β四聚体——HbH(β_4),终致溶血性贫血。本文着重介绍了本症的发病机理和诊断技术的进展。
From the genetic level of hemoglobin H disease research, harvest quite abundant, has become one of the very active field of molecular biology. The disease caused by alpha globin structural gene deletion or dysfunction, resulting in a severe lack of alpha-globin synthesis, normal human HbA synthesis decreased relative excessive accumulation of beta chain formed tetramer - HbH (beta 4), eventually hemolysis Anemia. This article focuses on the pathogenesis of this disease and the progress of diagnostic techniques.