A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)].
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).
Dutly
Fabrizio
F
Institute for Medical and Molecular Diagnostics Ltd, Zürich, Switzerland.
Fehr
Jörg
J
Goede
Jeroen Simon
JS
Morf
Markus
M
Troxler
Heinz
H
Frischknecht
Hannes
H
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*
D006455:Hemoglobins, Abnormal; D005914:Globins