edoc

A new alpha-globin variant with increased oxygen affinity in a Swiss family : Hb Frauenfeld [alpha 138(H21)Ser--<Phe, TCC<TTC (alpha 2)]

Hochuli, Michel and Zurbriggen, Karin and Schmid, Marlis and Speer, Oliver and Rochat, Philippe and Frauchiger, Beat and Kleinert, Peter and Schmugge, Markus and Troxler, Heinz. (2009) A new alpha-globin variant with increased oxygen affinity in a Swiss family : Hb Frauenfeld [alpha 138(H21)Ser--<Phe, TCC<TTC (alpha 2)]. Hemoglobin, Vol. 33. pp. 54-58.

Full text not available from this repository.

Official URL: http://edoc.unibas.ch/dok/A6003011

Downloads: Statistics Overview

Abstract

A new alpha-globin mutation [alpha 138(H21)Ser--<Phe] was found in a 55-year-old male proband with an erythrocytosis known since his youth. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting slightly before Hb A indicating the presence of a variant. The peak area of the variant was approximately one-third that of Hb A suggesting an alpha-globin variant. Matrix-assisted laser desorption ionization-time-of-flight mass spectrometry analysis confirmed the mutation at the protein level. The variant is also detectable with isoelectric focusing and reversed phase HPLC. DNA analysis revealed a heterozygous sequence mutation at codon 138 of the alpha2 gene. A C<T transition at the second nucleotide of the codon indicated a Ser--<Phe exchange. The variant showed increased oxygen affinity and was named Hb Frauenfeld.
Faculties and Departments:03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Angiologie
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Angiologie
UniBasel Contributors:Frauchiger, Beat
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Informa Healthcare
ISSN:1532-432X
Note:Publication type according to Uni Basel Research Database: Journal article
Related URLs:
Identification Number:
Last Modified:01 Feb 2013 08:46
Deposited On:01 Feb 2013 08:45

Repository Staff Only: item control page