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

Mattia RizziDivision of Haematology, University Children’s Hospital, CH-8032 Zürich, Switzerland;Children’s Research Center, University Children’s Hospital, CH-8032 Zürich, Switzerland

Karin ZurbriggenDivision of Haematology, University Children’s Hospital, CH-8032 Zürich, Switzerland;Children’s Research Center, University Children’s Hospital, CH-8032 Zürich, Switzerland

Marlis SchmidDivision of Haematology, University Children’s Hospital, CH-8032 Zürich, Switzerland

Jeroen S. GoedeZürich Centre for Integrative Human Physiology, University of Zürich, CH-8091 Zürich, Switzerland;Division of Haematology, University Hospital Zürich, CH-8091 Zürich, Switzerland

Michael A. NardiDepartments of Pediatrics and Pathology, New York University School of Medicine, New York, New York, USA

Markus SchmuggeDivision of Haematology, University Children’s Hospital, CH-8032 Zürich, Switzerland;Children’s Research Center, University Children’s Hospital, CH-8032 Zürich, Switzerland

Oliver SpeerDivision of Haematology, University Children’s Hospital, CH-8032 Zürich, Switzerland;Children’s Research Center, University Children’s Hospital, CH-8032 Zürich, Switzerland;Zürich Centre for Integrative Human Physiology, University of Zürich, CH-8091 Zürich, SwitzerlandCorrespondence[email protected]

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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.

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

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

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ACKNOWLEDGMENTS

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