title: A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)].
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).
authors.affiliation: Institute for Medical and Molecular Diagnostics Ltd, Zürich, Switzerland.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Dutly
authors.forename: Jörg
authors.initials: J
authors.lastname: Fehr
authors.forename: Jeroen Simon
authors.initials: JS
authors.lastname: Goede
authors.forename: Markus
authors.initials: M
authors.lastname: Morf
authors.forename: Heinz
authors.initials: H
authors.lastname: Troxler
authors.forename: Hannes
authors.initials: H
authors.lastname: Frischknecht
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011086:Polycythemia / Q000150:complications / Q000235:genetics; D011489:Protein Denaturation / Q000235:genetics; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins