dos Santos Camila Oresco, Costa Fernando Ferreira
State University of Campinas, Center of Hemotherapy and Hematology, São Paulo, Brazil.
Hematology. 2005 Apr;10(2):157-61. doi: 10.1080/10245330500067280.
The identification of defectives genes underlying inherited diseases has made it clear that patients with the same genotype can have variable clinical expression. Suggestions proposing that the protein AHSP, a alpha-globin specific chaperone could influence disease severity in patients with beta-thalassemia, an inherited disorder characterized by a quantitative deficiency of beta-globin genes. This article presents a review of the AHSP gene structure, function and expression. A discussion of the AHSP gene acknowledgements is presented with an overview of the possible genetic modifier function of AHSP on beta-thalassemia pathophysiology.
对遗传性疾病潜在缺陷基因的鉴定表明，具有相同基因型的患者可能有不同的临床表型。有观点认为，α-珠蛋白特异性伴侣蛋白AHSP可能会影响β地中海贫血患者的疾病严重程度，β地中海贫血是一种以β-珠蛋白基因定量缺陷为特征的遗传性疾病。本文对AHSP基因的结构、功能和表达进行了综述。文中讨论了AHSP基因的相关研究，并概述了AHSP对β地中海贫血病理生理学可能的基因修饰功能。
