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: Fabrizio Dutly, Jörg Fehr, Jeroen Simon Goede, Markus Morf, Heinz Troxler, Hannes Frischknecht
• Journal: Hemoglobin (Hemoglobin) Vol. 28 Issue 4 Pg. 347-51 ( 2004) ISSN: 0363-0269 [Print] England
• PMID: 15658192 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• Globins

Topics

• Adult
• Amino Acid Substitution (genetics)
• Globins (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Point Mutation (genetics)
• Polycythemia (complications, genetics)
• Protein Denaturation (genetics)
• alpha-Thalassemia (complications, genetics)