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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 4
143
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Short Communications

A New α1-Globin Mutation, Hb Brugg [α20(B1)His→Gln]

, , , , , & show all
Pages 417-422 | Received 10 May 2011, Accepted 20 May 2011, Published online: 28 Jul 2011
 

Abstract

A 2½-year-old male child and a 23-year-old woman with no clinical symptoms were investigated during routine consultations. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting before Hb A. DNA sequencing showed a novel heterozygous mutation at codon 20 of the α1-globin gene. The hemoglobin (Hb) variant was named Hb Brugg. Analysis of oxygen affinity Hb and Hb stability did not show any changes compared to normal Hb constellation.

ACKNOWLEDGMENTS

M.R. was supported by the Fondazione Ettore e Valeria Rossi and by United Bank of Switzerland (UBS AG) by order of a client.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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