Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 1
71
Views
3
CrossRef citations to date
0
Altmetric
Short Communications

A New α-Globin Variant with Increased Oxygen Affinity in a Swiss Family: Hb Frauenfeld [α138(H21)Ser→Phe, TCC>TTC (α 2)]

, , , , , , , & show all
Pages 54-58 | Received 01 Apr 2008, Accepted 01 Sep 2008, Published online: 07 Jul 2009
 

Abstract

A new α-globin mutation [α138(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 α-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 α2 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.

Notes

*The first two authors contributed equally to this study.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.