AHSP and beta-thalassemia: a possible genetic modifier.
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.
dos Santos
Camila Oresco
CO
State University of Campinas, Center of Hemotherapy and Hematology, São Paulo, Brazil. caoresco@unicamp.br
Costa
Fernando Ferreira
FF
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
C468768:AHSP protein, human; D001798:Blood Proteins; D018832:Molecular Chaperones