Article
Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
Hemoglobin - 1 Jan 2008
Wajcman Henri, Traeger-Synodinos Jan, Papassotiriou Ioannis, Giordano Piero C, Harteveld Cornelis L, Baudin-Creuza Véronique, Old John
Abstract excerpt
We report an update of the alpha-globin gene point mutations resulting in structural modification associated with an alpha-thalassemia (alpha-thal) phenotype. These variants, barely symptomatic in the heterozygous state, are either unstable due to folding defects and/or defects in binding to alpha-hemoglobin stabilizing protein (AHSP). This is predicted to result in precipitation of the unstable alpha chains or...
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