Article
Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function.
American journal of hematology - 1 Feb 2008
dos Santos Camila O, Zhou Suiping, Secolin Rodrigo, Wang Xiaomei, Cunha Anderson F, Higgs Douglas R, Kwiatkowski Janet L, Thein Swee Lay, Gallagher Patrick G, Costa Fernando F, Weiss Mitchell J
Abstract excerpt
Alpha-hemoglobin stabilizing protein (AHSP) is a potential modifier of beta-thalassemia by virtue of its ability to detoxify excess free alpha-globin. However, examination of patients with beta-thalassemia from a few geographic regions failed to identify obvious AHSP mutations. We extended these studies by analyzing AHSP gene sequences in 366 anonymous individuals from five different areas of the world. We...
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