A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].
Details
Serval ID
serval:BIB_CDD02090B2F8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].
Journal
Hemoglobin
ISSN
1532-432X (Electronic)
ISSN-L
0363-0269
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
35
Number
4
Pages
417-422
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
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.
Keywords
Binding, Competitive, Child, Preschool, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Female, Hemoglobins, Abnormal/genetics, Hemoglobins, Abnormal/metabolism, Heterozygote, Humans, Male, Mutation, Missense, Oxygen/metabolism, Protein Binding, Young Adult, alpha-Globins/genetics, alpha-Globins/metabolism
Pubmed
Web of science
Publisher's website
Create date
08/03/2021 11:03
Last modification date
13/03/2021 6:26
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