title: AHSP and beta-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 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.
authors: State University of Campinas, Center of Hemotherapy and Hematology, São Paulo, Brazil. caoresco@unicamp.br
authors: Camila Oresco
authors: CO
authors: dos Santos
authors: Fernando Ferreira
authors: FF
authors: Costa
mesh_terms: D001798:Blood Proteins / Q000235:genetics* / Q000378:metabolism; D018450:Disease Progression; D005786:Gene Expression Regulation; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics* / Q000378:metabolism; D017086:beta-Thalassemia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: C468768:AHSP protein, human; D001798:Blood Proteins; D018832:Molecular Chaperones