AHSP and β-thalassemia: A possible genetic modifier

Abstract

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 α-globin specific chaperone could influence disease severity in patients with β-thalassemia, an inherited disorder characterized by a quantitative deficiency of β-globin genes. This article presents a review of the AHSP gene structure, function and expression. A discussion of the AHSP gene knowledgments is presented with an overview of the possible genetic modifier function of AHSP on β-thalassemia pathophisiology. © 2005 Taylor & Francis Ltd.