A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

Fabrizio Dutly Institute for Medical and Molecular Diagnostics Ltd., Rautistrasse 13, CH‐8047, Zürich, Switzerland

Jörg Fehr Division of Hematology, University Hospital, Zürich, Switzerland

Jeroen Simon Goede Division of Hematology, University Hospital, Zürich, Switzerland

Markus Morf Medizinische Poliklinik, University Hospital, Zürich, Switzerland

Heinz Troxler Department of Pediatrics, Division of Clinical Chemistry, University of Zürich, Zürich, Switzerland

Hannes Frischknecht Institute for Medical and Molecular Diagnostics Ltd., Rautistrasse 13, CH‐8047, Zürich, Switzerland

Abstract

A new α‐globin mutation causing persistent mild hypochromic microcytosis and erythrocytosis is described. Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)] is not detected at the protein level and leads to α⁺‐thalassemia (thal).

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A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

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A New Highly Unstable α Chain Variant Causing α+‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

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A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]