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A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln]


Rizzi, M; Zurbriggen, K; Schmid, M; Goede, J S; Nardi, M A; Schmugge, M; Speer, O (2011). A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln]. Hemoglobin, 35(4):417-422.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Hematology
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Center for Integrative Human Physiology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2011
Deposited On:18 Nov 2011 08:10
Last Modified:07 Dec 2017 09:42
Publisher:Informa Healthcare
ISSN:0363-0269
Publisher DOI:https://doi.org/10.3109/03630269.2011.594138
PubMed ID:21797708

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