A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2) |
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Authors: | Dutly Fabrizio Fehr Jörg Goede Jeroen Simon Morf Markus Troxler Heinz Frischknecht Hannes |
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Affiliation: | Institute for Medical and Molecular Diagnostics Ltd, Zürich, Switzerland. |
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Abstract: | A new alpha-globin mutation causing persistent mild hypochromic microcytosis and erythrocytosis is described. Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)] is not detected at the protein level and leads to alpha(+)-thalassemia (thal). |
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