AHSP and beta-thalassemia: a possible genetic modifier

Hematology. 2005 Apr;10(2):157-61. doi: 10.1080/10245330500067280.

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 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.

Publication types

  • Review

MeSH terms

  • Blood Proteins / genetics*
  • Blood Proteins / metabolism
  • Disease Progression
  • Gene Expression Regulation*
  • Humans
  • Molecular Chaperones / genetics*
  • Molecular Chaperones / metabolism
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / metabolism
  • beta-Thalassemia / physiopathology

Substances

  • AHSP protein, human
  • Blood Proteins
  • Molecular Chaperones