A new alpha-globin variant with increased oxygen affinity in a Swiss family : Hb Frauenfeld [alpha 138(H21)Ser--
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 1192763
Author(s) Hochuli,Michel; Zurbriggen,Karin; Schmid,Marlis; Speer,Oliver; Rochat,Philippe; Frauchiger,Beat; Kleinert,Peter; Schmugge,Markus; Troxler,Heinz
Author(s) at UniBasel Frauchiger, Beat
Year 2009
Title A new alpha-globin variant with increased oxygen affinity in a Swiss family : Hb Frauenfeld [alpha 138(H21)Ser--
Journal Hemoglobin
Volume 33
Number 1
Pages / Article-Number 54-58
Keywords -Globin variant, PolyCAT A, High performance liquid chromatography (HPLC), Mass spectrometry (MS), Erythrocytosis
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.
Publisher Informa Healthcare
ISSN/ISBN 1532-432X
edoc-URL http://edoc.unibas.ch/dok/A6003011
Full Text on edoc No
Digital Object Identifier DOI 10.1080/03630260802625733
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/19205974
ISI-Number WOS:000263267500007
Document type (ISI) Journal Article
 
   

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